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Abnormal Spinal Curvatures

July 16, 2014 by SF Custom Chiropractic


Abnormal Curvature of the Spine

The main purposes of the bony spine are to support the bodys weight, to provide
stability of the torso, to allow for flexibility of motion, and to protect the spinal cord.
Abnormal curvature of the spinal columns vertebrae

may hinder or result in the inability of the spine


to carry out these functions. The spinal column is composed of 24 vertebrae. There are
7 cervical vertebrae starting at the base of the skull and spanning the neck, 12 thoracic
vertebrae located in the upper trunk of the body, and 5 lumbar vertebrae in the lower
back. The medical terminology for each of the sections is noted as C1-C7 for cervical
vertebrae, T1-T12 for thoracic vertebrae, and L1-L5 for the lumbar vertebrae. A normal
spine consists of concave and convex curvatures; however, when the curves become
too extreme or the spine begins to curve laterally in the frontal plane, painful spinal
conditions may evolve; common abnormal curvatures of the spine include kyphosis,
lordosis, and scoliosis.

Kyphosis
Kyphosis is identified by an abnormal outward curvature of the thoracic spine. This type
of spinal abnormality is most prevalent among the elderly population. People with this
specific spinal abnormality may experience difficulty with balance because it tends to
lead to an abnormal flexion of the spine. This can also increase compression and shear
forces applied to the thoracic vertebrae, resulting in constant discomfort and inhibition of
comfortable range of motion. Causes of Kyphosis can be years of poor posture such
asforward head posture, or conditions such as AS (Ankylosing Spondylitis),
Scheuermann disease or DISH (Diffuse Idiopathic Skeletal Hyperostosis).

Lordosis

Lordosis refers the the abnormal curvature of the lumbar spine. When this occurs, the
person typically experiences low back pain and muscle spasms. While it is common in
dancers and in individuals who do not lift weight properly, it is also prominent among
those who have uneven muscles between the abdominals and lower back muscles. A
combination of weak hamstrings and tight hip flexors has also been known to cause
lordosis.

Scoliosis

Scoliosis is a condition in which the spine curves laterally in the frontal plane and can
onset at any age. A cause of scoliosis is uneven muscles on either side of the spine,
uneven hips, arm, or legs, or an abnormal rib cage rotation. Secondary scoliosis can
arise from neuromuscular conditions such as spina bifida. To diagnose scoliosis, a
doctor would look to identify if the spine is greater than 10 degrees out of normal range.
Since the ribs are attached to the spine, if scoliosis is not identified early the ribs can
apply abnormal pressure on internal organs that may result in other severe health
concerns.

Treatments
If the kyphosis or lordosis hasnt progressed too far, chiropractic and physical therapy
are both recommend to treat weakness and misalignments of the spine. However, if the
spine is 50 degrees or greater outside the normal range of curvature, surgery may be
required. At SF Custom Chiropractic, a thorough exam, including range of motion,
postural check and orthopedic tests can be administered to identify the condition of the
abnormal spinal curvature. Chiropractic therapy can slow down, stop, or even reverse
the signs of abnormal spinal curvature. Part of the treatment process includes custom
exercises and stretches that will help strengthen weaker muscles to alleviate the
unevenness.
Sources:

Briggs, A. M., Van Dieen, J. H., Wrigley, T. V., Grieg, a. M., Phillips, B., Sing Kai, L., &
Bennell, K. L.

(2007). Thoracic Kyphosis Affects Spinal Loads and Trunk Muscle Force. Physical
Therapy, 87(5), 595-607.

Arthrogryposis Multiplex
Congenita
(Multiple Congenital Contractures)

By Simeon A. Boyadjiev Boyd, MD, University of California Davis;UC Davis Children's


Hospital

Arthrogryposis multiplex congenita refers to a variety of conditions that involve congenital


limitation of joint movement. Intelligence is relatively normal except when the
arthrogryposis is caused by a disorder or syndrome that also affects intelligence.

Arthrogryposis is not a specific diagnosis but rather a clinical finding of congenital contractures;
these may be present in > 300 different disorders. Prevalence varies in different studies between
about 1/3,000 to 1/12,000 live births. The perinatal mortality for some of the underlying
conditions is as high as 32%, so establishing a specific diagnosis is important for prognosis and
genetic counseling.
There are two major types of arthrogryposis multiplex congenita (AMC):

Amyoplasia (classic arthrogryposis): Multiple symmetric contractures occur in the


limbs. Affected muscles are hypoplastic and have fibrous and fatty degeneration. Usually
intelligence is normal. About 10% of patients have abdominal abnormalities (eg,
gastroschisis, bowel atresia) due to a lack of muscle formation. Nearly all cases are
sporadic.

Distal arthrogryposis : The hands and feet are involved, but the large joints are typically
spared. Distal arthrogryposes are a heterogeneous group of disorders, many of which are
associated with a specific gene defect in one of a number of genes that encode
components of the contractile apparatus. Many distal arthrogryposes are transmitted as
autosomal dominant disorders, but x-linked mutations are known.

Etiology

Any condition that impairs in utero movement for > 3 wk can result in AMC. Causes may involve

Physical limitation of movement (eg, due to uterine malformations, multiple gestations, or


oligohydramnios) causing fetal akinesia/hypokinesia syndrome (Pena-Shokeir syndrome), frequently
associated with pulmonary hypoplasia

Maternal disorders (eg, multiple sclerosis, impaired uterine vascularity)

Genetic disorders affecting the fetus (eg, neuropathies; myopathies, including muscular dystrophies;
connective tissue abnormalities; impaired fetal vascularity; anterior horn cell disease)

More than 35 specific genetic disorders (eg, spinal muscular atrophy type I, trisomy 18) have been linked to
AMC.

Symptoms and Signs

Deformities are prominent at birth. AMC is not progressive; however, the condition that causes it (eg, muscular
dystrophy) may be. Affected joints are contracted in flexion or extension. In the classic manifestations of
AMC, shoulders are sloped, adducted, and internally rotated, the elbows are extended, and the wrists and digits
are flexed. Hips may be dislocated and are usually slightly flexed. Knees are extended; feet are often in the
equinovarus position. Leg muscles are usually hypoplastic, and limbs tend to be tubular and featureless. Soft-
tissue webbing sometimes occurs over ventral aspects of the flexed joints. The spine may be scoliotic. Except
for slenderness of the long bones, the skeleton appears normal on x-rays. Physical disabilities may be severe.
As noted, some children may have primary CNS dysfunction, but intelligence is usually unimpaired.
Arthrogryposis
Multiplex Congenita

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Endotracheal intubation during surgery may be difficult because children have small immobile jaws. Other
abnormalities that rarely accompany arthrogryposis include microcephaly, cleft palate, cryptorchidism, and
cardiac and urinary tract abnormalities; these findings raise suspicion for an underlying chromosomal defect or
genetic syndrome.

Diagnosis

Clinical evaluation

Testing for cause


If a newborn has multiple contractures, the initial evaluation should determine whether the condition is
amyoplasia, distal arthrogryposis, or another syndrome where multiple contractures are associated with
unrelated congenital anomalies and/or metabolic disorders. When available, a clinical geneticist should
coordinate the assessment and management; typically, practitioners from many specialties are involved. A
syndromic form of AMC is suspected when developmental delays and/or other congenital anomalies are
present, and such patients should be evaluated for CNS disorders and monitored for progressive neurologic
symptoms.

Evaluation should also include a thorough assessment for associated physical, chromosomal, and genetic
abnormalities. Specific disorders to be sought include Freeman-Sheldon syndrome, Holt-Oram syndrome,
Larsen syndrome, Miller syndrome, multiple pterygium syndrome, and DiGeorge syndrome (22q11 deletion
syndrome). Testing typically starts with a chromosomal microarray analysis and followed by specific gene
tests that are done individually or as a standard panel by many genetic laboratories. Electromyography and
muscle biopsy are useful to diagnose neuropathic and myopathic disorders. In classic AMC, muscle biopsy
typically shows amyoplasia, with fatty and fibrous replacement of tissues.

Treatment

Joint manipulation and casting

Sometimes surgical procedures

Early orthopedic and physical therapy evaluations are indicated. Joint manipulation and casting during the first
few months of life may produce considerable improvement. Orthotics may help. Surgery may be needed later
to align the angle of ankylosis, but mobility is rarely enhanced. Muscle transfers (eg, surgically moving the
triceps so that it can flex the elbow) may improve function. Many children do remarkably well; two thirds are
ambulatory after treatment.

Common Congenital Limb


Defects
By Simeon A. Boyadjiev Boyd, MD, University of California Davis;UC Davis Children's
Hospital

Limb deficiencies

Congenital limb amputations and deficiencies are missing or incomplete limbs at birth. The overall prevalence
is 7.9/10,000 live births. Most are due to primary intrauterine growth inhibition, or disruptions secondary to
intrauterine destruction of normal embryonic tissues. The upper extremities are more commonly affected.
Congenital limb deficiencies have many causes and often occur as a component of various congenital
syndromes. Teratogenic agents (eg, thalidomide, vitamin A) are known causes of hypoplastic/absent limbs.
The most common cause of congenital limb amputations are vascular disruption defects, such as amniotic
band-related limb deficiency, in which loose strands of amnion entangle or fuse with fetal tissue.

Limb deficiencies can be

Longitudinal (more common)

Transverse

Longitudinal deficiencies involve specific maldevelopments (eg, complete or partial absence of the radius,
fibula, or tibia). Radial ray deficiency is the most common upper-limb deficiency, and hypoplasia of the fibula
is the most common lower-limb deficiency. About two thirds of cases are associated with other congenital
disorders, including Adams-Oliver syndrome (aplasia cutis congenita with partial aplasia of the skull bones and
terminal transverse limb malformations), Holt-Oram syndrome, TAR syndrome
( thrombocytopenia- absent radius), and VACTERL ( vertebral anomalies, anal atresia, cardiac

malformations, tracheo esophageal f


istula, renal anomalies andradial aplasia, and limb anomalies).

VACTERL (Upper Extremity Limb Abnormalities)


Image courtesy of CDC/Dr. James W. Hanson via the Public Health Image Library of the Centers for Disease

Con trol and Prevention.

VACTERL (Lower Extremity Limb Abnormalities)

Image courtesy of CDC/Dr. James W. Hanson via the Public Health Image Library of the Centers for Disease
Control and Prevention.

Radial Ray
Deficiency

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In transverse deficiencies , all elements beyond a certain level are absent, and the limb resembles an
amputation stump. Amniotic bands are the most common cause; the degree of deficiency varies based on the
location of the band, and typically, there are no other defects or anomalies. The remaining cases are mostly due
to underlying genetic syndromes such as Adams-Oliver syndrome or chromosomal abnormalities.

With transverse or longitudinal deficiency, depending on the etiology, infants may also have hypoplastic or
bifid bones, synostoses, duplications, dislocations, or other bony defects; eg, in proximal femoral focal
deficiency, the proximal femur and acetabulum do not develop. One or more limbs may be affected, and the
type of defect may be different in each limb. CNS abnormalities are rare.

Polydactyly

Polydactyly is supernumerary digits and is the most frequent congenital limb deformity. This deformity is
classified as preaxial, central, and postaxial.

Preaxial polydactyly is an extra thumb or great toe. The manifestations range from a broad or duplicated
distal phalange to complete duplication of the digit. It may occur in isolation, possibly with autosomal
dominant inheritance, or it may be part of certain genetic syndromes, including acrocallosal syndrome (with
developmental delay and corpus callosum defects), Carpenter and Pfeiffer syndromes (with craniosynostosis),
Fanconi and Diamond-Blackfan anemias, and Holt-Oram syndrome (with congenital heart defects).

Polydactyly

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Central polydactyly is rare and involves duplication of the ring, middle, index fingers. It can be associated
with syndactyly and cleft hand. The majority of cases are syndromic.

Postaxial polydactyly is most common and involves an extra digit on the ulnar/fibular side of the limb. Most
commonly, the extra finger is rudimentary, but it can be completely developed. In people of African descent,
this type of polydactyly is usually an isolated defect. In other populations, it is more often associated with a
syndrome of multiple congenital anomalies or chromosomal defects. Among the syndromes to be considered
are Greig cephalopolysyndactyly syndrome, Meckel syndrome, Ellis-van Creveld syndrome, McKusick-
Kaufman syndrome, Down syndrome, and Bardet-Biedl syndrome.

Syndactyly

Syndactyly is webbing or fusion of fingers or toes. Several different types are defined, and the majority follow
an autosomal dominant inheritance pattern. Simple syndactyly involves only fusion of the soft tissue, whereas
complex syndactyly also involves fusion of the bones. Complex syndactyly is present in Apert syndrome (with
craniosynostosis). Syndactyly of the ring and the small fingers is common in oculo-dento-digital dysplasia.
Smith-Lemli-Opitz syndrome manifests with syndactyly of the 2nd and 3rd toes along with multiple other co

ngenital anomalies.

Syndactyly (Complex)

Diagnosis

Usually x-rays

Sometimes genetic testing

Typically, x-rays are done to determine which bones are involved. When defects appear to be familial or if a
genetic syndrome is suspected, evaluation should also include a thorough assessment for other physical,
chromosomal, and genetic abnormalities. When available, assessment by a clinical geneticist is useful.
Treatment

Prosthetic devices

Treatment consists mainly of prosthetic devices, which are most valuable for lower-limb deficiencies and for
completely or almost completely absent upper limbs. If any activity in an arm or hand exists, no matter how
great the malformation, functioning capacity must be thoroughly assessed before a prosthesis or surgical
procedure is recommended. Therapeutic amputation of any limb or portion of a limb should be considered only
after evaluating the functional and psychologic implications of the loss and when amputation is essential for
fitting a prosthesis.

An upper-limb prosthesis should be designed to serve as many needs as possible so that the number of devices
is kept to a minimum. Children use a prosthesis most successfully when it is fitted early and becomes an
integral part of their body and body image during the developmental years. Devices used during infancy should
be as simple and durable as possible; eg, a hook rather than a bioelectric arm. With effective orthopedic and
ancillary support, most children with congenital amputations lead normal lives.

Last full review/revision March 2014 by Simeon A. Boyadjiev Boyd, MD

Congenital Craniofacial
Abnormalities
By Simeon A. Boyadjiev Boyd, MD, University of California Davis;UC Davis Children's
Hospital

Congenital craniofacial abnormalities are a group of defects caused by abnormal growth


and/or development of the head and facial bones.

Various craniofacial abnormalities (CFA) result from maldevelopment of the 1st and 2nd visceral
arches, which form the facial bones and ears during the 2nd month of gestation. Causes include
several thousand genetic syndromes as well as prenatal environmental factors (eg, use of vitamin
A, valproic acid).

Each of the specific congenital anomalies discussed here typically can be associated with many
different genetic syndromes, some of which are named (eg, Treacher Collins syndrome). Because
of the large number of syndromes, the discussions focus on the different structural
manifestations. Detailed information on many of the specific syndromes is available from the
Online Mendelian Inheritance in Man ( OMIM ) catalog of genetic disorders.

In general, children with CFA should be evaluated for other associated physical anomalies and
developmental delays that may require treatment and/or help identify specific syndromes and
causes. Identification of the underlying syndrome is important for prognosis and family
counseling; a clinical geneticist, when available, can help guide the evaluation.

Macrocephaly

Macrocephaly (megacephaly) is a head circumference > 3 standard deviations above the mean for age. There
are two types.

In disproportionate macrocephaly, the head is larger than appropriate for the child's size; affected children
are at risk of autism spectrum disorders, developmental disability, and seizures.

In proportionate macrocephaly, the head appears appropriately sized for the body (ie, the large head is
associated with a large stature), and an overgrowth syndrome (eg, growth hormone excess) should be
considered.

Evaluation should include a 3-generation family history, developmental and neurologic assessment,
examination for limb asymmetry and cutaneous lesions, and brain MRI. Sometimes disproportionate
macrocephaly is familial and not associated with other anomalies, complications, or developmental delays; this
form is transmitted in an autosomal dominant pattern, so at least one parent has a large head circumference.
The diagnoses to be considered include neurofibromatosis type I, Fragile X syndrome, Sotos syndrome, and
lysosomal storage disorders.

Microcephaly

Microcephaly is a head circumference < 2 standard deviations below the mean for age. In microcephaly, the
head is disproportionately small in relation to the rest of the body. Microcephaly has many chromosomal or
environmental causes, including prenatal drug, alcohol, or radiation exposure, prenatal infections (eg, TORCH
[toxoplasmosis, other pathogens, rubella, cytomegalovirus, and herpes simplex] and possibly Zika virus), and
poorly controlled maternal phenylketonuria. Microcephaly also is a feature of > 400 genetic syndromes. The
consequences of microcephaly itself include neurologic and developmental disorders (eg, seizure disorders,
intellectual disability, spasticity).

Microcephaly
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Evaluation should include detailed prenatal history to identify risk factors, developmental and neurologic
assessment, and brain MRI. Primary autosomal recessive microcephaly may involve a defect in one or more of
at least four genes.

Among the genetic syndromes to be considered are Seckel syndrome, Smith-Lemli-Opitz syndrome,
syndromes due to defective DNA repair (eg, Fanconi and Cockayne syndromes), and Angelman syndrome. For
parents of an affected child, risk of the disorder appearing in subsequent offspring may be as high as 25%,
depending on which syndrome is present, and thus clinical genetic assessment is necessary.

Craniosynostosis

Craniosynostosis is premature fusion of one or more calvarial sutures, which causes a characteristic skull
deformity due to decreased growth in a direction perpendicular to the closed suture. It occurs in 1 of 2500 live
births. There are several types, depending on which suture is fused.

Sagittal craniosynostosis is the most common type and causes a narrow and long skull (dolichocephaly).
Most cases are isolated and sporadic, with risk of transmission to offspring < 3%. Learning disability may be
present in up to 40 to 50% of patients.

Coronal craniosynostosis is the second most common type and can be bilateral, causing a short and broad
skull (brachycephaly), or unilateral, causing a diagonal skull deformity (plagiocephaly). True plagiocephaly
(ie, caused by craniosynostosis) often results in asymmetric orbits and is to be differentiated from positional
plagiocephaly, which is due to torticollis or positioning the infant predominantly on one side and does not
result in asymmetric orbits. In positional plagiocephaly, the back of the skull is flattened on one side, there is
frontal bossing on the same side, and the ear on the flattened side may be pushed forward, but the orbits remain
symmetrical. About 25% of coronal craniosynostosis cases are syndromic and due to single-gene mutations or
chromosomal defects. Coronal craniosynostosis is commonly associated with facial and extracranial anomalies
within the context of Crouzon, Muenke, Pfeiffer, Saethre-Chotzen, Carpenter, or Apert syndromes.

Eye anomalies

Hypertelorism is widely spaced eyes, as determined by increased interpupillary distance, and can occur in
several congenital syndromes, including frontonasal dysplasia (with midline facial cleft, and brain
abnormalities), craniofrontonasal dysplasia (with craniosynostosis), and Aarskog syndrome (with limb and
genital anomalies).
H
ypertelorism and Micrognathia

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Hypotelorism is closely spaced eyes, as determined by decreased interpupillary distance. This anomaly should
raise suspicion of holoprosencephaly (a midline brain abnormality).

Coloboma is a gap in the structure of the eye that may affect the eyelid, iris, retina, or optic nerve of one or
both eyes. Coloboma of the eyelid is frequently associated with epibulbar dermoid cysts and is common in
Treacher Collins syndrome, Nager syndrome, and Goldenhar syndrome. Coloboma of the iris raises the
possibility of CHARGE association ( coloboma, heart defects, atresia of the choanae, retardation of mental
and/or physical development, genital hypoplasia, and ear abnormalities), cat eye syndrome, Kabuki syndrome,
or Aicardi syndrom
e.

Coloboma

DR P. MARAZZI/SCIENCE PHOTO LIBRARY

Microphthalmia is a small eye globe, which may be unilateral or bilateral. Even when unilateral, mild
abnormalities (eg, microcornea, colobomas, congenital cataract) of the other eye are frequently present. It
causes sight-threatening complications such as angle-closure glaucoma, chorioretinal pathology (eg, uveal
effusion), strabismus, and amblyopia. Causes include prenatal exposure to teratogens, alcohol, and infections
(TORCH), and numerous chromosomal or genetic disorders, some of which are suggested by other clinical
features. Growth and developmental delays are frequently present in microphthalmia that is caused by a
chromosomal disorder. Facial asymmetry suggests Goldenhar syndrome or Treacher Collins syndrome; hand
abnormalities suggest trisomy 13, oculo-dental-digital syndrome, or fetal alcohol syndrome; and genital abn
ormalities may suggest chromosomal defects, Fraser syndrome, or CHARGE association.

Microphthalmia

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Anophthalmia is complete absence of the eye globe and occurs in > 50 genetic syndromes caused by
chromosomal anomalies or mutations in one of several genes (eg, SOX2 , OTX2 , BMP4 ). When skin covers
the orbit, the anomaly is called cryptophthalmos, which suggests Fraser syndrome, Nager syndrome, or
ophthalmia-mental retardation.

Anopthalmia
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Cleft palate and cleft lip

Cleft lip, cleft lip and palate, and isolated cleft palate, are collectively termed oral clefts (OCs). OCs are the
most common congenital anomalies of the head and the neck with a total prevalence of 2.1 per 1000 live
births. Both environmental and genetic factors have been implicated as causes. Prenatal maternal use of
tobacco and alcohol may increase risk. Having one affected child increases risk of having a second affected

child. Folate, taken just before becoming pregnant and through the 1st trimester, decreases the risk.

Cleft Lip

DR M.A. ANSARY/SCIENCE PHOTO LIBRARY


Cleft
Palate

MORRIS HUBERLAND/SCIENCE PHOTO LIBRARY

Oral clefts are divided into 2 groups:

Syndromic (30%)

Nonsyndromic (70%)

Syndromic OCs are those present in patients with recognized congenital syndromes or with multiple
congenital anomalies. These OCs are typically caused by chromosome abnormalities and defined monogenic
syndromes.

Nonsyndromic (isolated) OCs are those present in patients without associated anomalies or developmental
delays. A number of different gene mutations can cause the phenotype, including mutations of some of the
genes that are involved with syndromic OCs, which suggests there is significant overlap between syndromic
and nonsyndromic OCs.

The cleft may vary from involvement of only the soft palate to a complete fissure of the soft and hard palates,
the alveolar process of the maxilla, and the lip. The mildest form is a bifid uvula. An isolated cleft lip can
occur.

A cleft palate interferes with feeding and speech development and increases the risk of ear infections. Goals of
treatment are to ensure normal feeding, speech, and maxillofacial growth and to avoid formation of fistulas.
Early treatment, pending surgical repair, depends on the specific abnormality but may include specially
designed bottle nipples (to facilitate flow), dental appliances (to occlude the cleft so suckling can occur), a
feeder that can be squeezed to deliver formula, taping, and an artificial palate molded to the childs own palate.
The frequent episodes of acute otitis media must be recognized and treated.

Ultimate treatment is surgical closure; however, timing of surgery, which may interfere with growth centers
around the premaxilla, is somewhat controversial. For a cleft palate, a 2-stage procedure is often done. The
cleft lip, nose, and soft palate are repaired during infancy (at age 3 to 6 mo). Then, the residual hard palate cleft
is repaired at age 15 to 18 mo. Surgery can result in significant improvement, but if deformities are severe or
treatment is inadequate, patients may be left with a nasal voice, compromised appearance, and a tendency to
regurgitate. Dental and orthodontic treatment, speech therapy, and counseling may be required.

Micrognathia (small mandible)

Micrognathia may occur in > 700 genetic syndromes.

Pierre Robin sequence is a common manifestation of micrognathia characterized by a U-shaped cleft soft
palate and upper airway obstruction caused by glossoptosis (a tongue that falls to the back of the throat);
conductive hearing loss may also be present. Feeding can be difficult, and sometimes cyanosis develops
because the tongue is posterior and may obstruct the pharynx. Prone positioning during feeding may help, but
uncoordinated swallowing may require nasogastric gavage feedings or a gastrostomy tube. If cyanosis or
respiratory problems persist, tracheostomy or surgery to affix the tongue in a forward position (eg, sewing it to
the inner lower lip) may be required. Otologic evaluation is indicated.

About one third of patients with micrognathia have associated anomalies that suggest an underlying
chromosomal defect or genetic syndrome. When other anomalies are present, a clinical geneticist can help
guide the evaluation because identification of the underlying syndrome is important for prognosis and family
counseling. Some of the diagnoses to be considered include Treacher Collins syndrome (associated with
downward slant of the eyes, coloboma of the eyelid, malformed pinna [microtia], and hearing loss), Nager
syndrome, Goldenhar (oculoauriculovertebral) syndrome, and cerebrocostomandibular syndrome.

Surgical extension of the mandible can improve appearance and function. In the typical procedure, called
distraction osteogenesis, an osteotomy is done and a distraction (separator) device is attached to both pieces.
Over time, the distance between the two pieces is widened, and new bone grows in between to enlarge the
mandible.

Agnathia

Congenital absence of the condyloid process (and sometimes the coronoid process, the ramus, and parts of the
mandibular body) is a severe malformation. The mandible deviates to the affected side, resulting in severe
malocclusion; the unaffected side is elongated and flattened. Abnormalities of the external, middle, and inner
ears, temporal bone, parotid gland, masticatory muscles, and facial nerve often coexist. Syndromes to be
considered include agnathia-holoprosencephaly, otocephaly, a severe form of cerebrocostomandibular
syndrome, and Ivemark syndrome.
X-rays or facial CT of the mandible and temporomandibular joint show the degree of underdevelopment and
distinguish agenesis from other conditions that result in similar facial deformities but do not involve severe
structural loss. Facial CT is usually done before surgery.

Treatment consists of prompt reconstruction with autogenous bone grafting (costochondral graft) to limit
progression of facial deformity. Often, mentoplasty, onlay grafts of bone and cartilage, and soft-tissue flaps and
grafts further improve facial symmetry. Distraction osteogenesis (see Micrognathia (small mandible)) is being
increasingly used. Orthodontic treatment in early adolescence helps correct malocclusion.

Congenital ear malformations

Microtia and external auditory canal atresia (which causes conductive hearing loss) involve the external ear.
These malformations, which frequently coexist, are often identified at or soon after birth. Occasionally, school-
based screening tests identify a partially occluded external auditory canal in children with a normal pinna.
Microtia

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Hearing tests (see Hearing Loss : Physical examination) and CT of the temporal bone are necessary to evaluate
possible additional bony malformations.

Treatment can include surgery and a bone-conduction hearing aid, depending on whether the malformation is
unilateral or bilateral; whether it affects hearing, learning, and social development; and whether complications
(eg, facial nerve involvement, cholesteatoma, otitis media) are present. Surgery may include pinna
reconstruction and the creation of an external auditory canal, tympanic membrane, and ossicles.

Last full review/revision March 2014 by Simeon A. Boyadjiev Boyd, MD


Resources In This Article

Figure 1

Microcephaly

Figure 2

Hypertelorism and Micrognathia

Figure 3

Coloboma

Figure 4

Microphthalmia

Figure 5

Anopthalmia

Figure 6

Cleft Lip

Figure 7

Cleft Palate

Figure 8

Microtia

Congenital Hip, Leg, and Foot


Abnormalities
By Simeon A. Boyadjiev Boyd, MD, University of California Davis;UC Davis Children's
Hospital

NOTE: This is the Professional Version. CONSUMERS: Click here for


the Consumer Version

Congenital Craniofacial and Musculoskeletal Abnormalities


Introduction to Congenital Craniofacial and Musculoskeletal Abnormalities
Arthrogryposis Multiplex Congenita
Common Congenital Limb Defects
Congenital Craniofacial Abnormalities
Congenital Hip, Leg, and Foot Abnormalities
Congenital Muscle Abnormalities
Congenital Neck and Back Abnormalities

Orthopedic abnormalities of the hip, leg, and foot are sometimes not apparent at birth.
Causes include in utero positioning, ligamentous laxity, and skeletal deformities. Some
abnormalities resolve without intervention; however, others require treatment.

Developmental dysplasia of the hip (DDHformerly


congenital dislocation of the hip)

DDH is abnormal development of the hip joint, leading to subluxation or dislocation; it can be unilateral or
bilateral. High risk factors include

Breech presentation

Presence of other deformities (eg, torticollis, congenital foot deformity)

Positive family history (particularly for girls)

DDH seems to result from laxity of the ligaments around the joint or from in utero positioning. Asymmetric
skin creases in the thigh and groin are common, but such creases also occur in infants without DDH. If DDH
remains undetected and untreated, the affected leg eventually becomes shorter, and the hip may become
painful. Abduction of the hip is often impaired due to adductor spasm.

All infants are screened by physical examination. Because physical examination has limited sensitivity, high-
risk infants and those with abnormalities found during physical examination typically should have an imaging
study.
Two screening maneuvers commonly are used. The Ortolani maneuver detects the hip sliding backinto the
acetabulum, and the Barlow maneuver detects the hip sliding out of the acetabulum. Each hip is examined
separately. Both maneuvers begin with the infant supine and the hips and knees flexed to 90 (the feet will be
off the bed). To do the Ortolani maneuver, the thigh of the hip being tested is abducted (ie, the knee is moved
away from the midline into a frog-leg position) and gently pulled anteriorly. Instability is indicated by the
palpable, sometimes audible, clunk of the femoral head moving over the posterior rim of the acetabulum and
relocating in the cavity. Next, in the Barlow maneuver, the hip is returned to the starting position and then
slightly adducted (ie, the knee is drawn across the body) and the thigh is pushed posteriorly. A clunk indicates
that the head of the femur is moving out of the acetabulum. Also, a difference in knee height when the child is
supine with hips flexed, knees bent, and feet on the examining table (Galeazzi signsee Figure: Galeazzi
sign.) suggests dysplasia, especially unilateral. Somewhat later (eg, by 3 or 4 mo of age), subluxation or
dislocation is indicated by inability to completely abduct the thigh when the hip and knee are flexed; abduction
is impeded by adductor spasm, which is often present even if the hip is not actually dislocated at the time of
examination. Minor benign clicks are commonly detected. Although clicks usually disappear within 1 or 2 mo,
they should be checked regularly. Because bilateral dysplasia may be difficult to detect at birth, periodic testing
for limited hip abduction during the first year of life is advised.

Ultrasonography of the hips is recommended at 6 wk of age for infants at high risk, including those with a
breech presentation, those born with other deformities (eg, torticollis, congenital foot deformity), and girls with
a positive family history of DDH.

Imaging is also required when any abnormality is suspected during examination. Hip ultrasonography can
accurately establish the diagnosis earlier in life. Hip x-rays are helpful after the bones have started to ossify,
typically after age 4 mo.

Early treatment is critical. With any delay, the potential for correction without surgery decreases steadily. The
hip usually can be reduced immediately after birth, and with growth, the acetabulum can form a nearly normal
joint. Treatment is with devices, most commonly the Pavlik harness, which hold the affected hips abducted and
externally rotated. The Frejka pillow and other splints may help. Padded diapers and double or triple diapering
are not effective and should not be done to correct DDH.
Galeazzi sign.

The child is positioned as shown. The knee is lower on the affected side because of posterior displacement in the
developmentally dysplastic hip (arrow).

Femoral torsion (twisting)

The femoral head may be twisted. Torsion may be either internal (femoral anteversionknees pointing toward
each other with toes in) or external (femoral retroversionknees pointing in opposite directions) and is
common among neonates. At birth, internal torsion can be as much as 40 and still be normal. External torsion
can also be prominent at birth and still be normal. Torsion is recognized by laying the child prone on the
examining table. The hips are rotated externally and internally. Limitation of internal rotation indicates femoral
anteversion, whereas limitation of external rotation indicates femoral retroversion.

Children with internal torsion may regularly sit in the W position (ie, knees are together and feet are spread
apart) or sleep prone with legs extended or flexed and internally rotated. These children probably assume this
position because it is more comfortable. The W sitting position was thought to worsen torsion, but there is little
evidence that the position should be discouraged or avoided. By adolescence, internal torsion tends to
gradually decrease to about 15 without intervention. Orthopedic referral and treatment, which includes
derotational osteotomy (in which the bone is broken, rotated into normal alignment, and casted), is reserved for
children who have a neurologic deficit such as spina bifida or those in whom torsion interferes with
ambulation.

External torsion may occur if in utero forces result in an abduction or external rotation of the lower extremity.
If external torsion is prominent at birth, a thorough evaluation (including x-rays or ultrasonography) for hip
dislocation is indicated. External torsion typically corrects spontaneously, especially after children begin to
stand and walk, but orthopedic referral is needed when excessive torsion persists after 8 yr. Treatment includes
derotational osteotomy.

Genu varum and genu valgum

The 2 major types of knee or femoral-tibial angular deformities are genu varum (bowlegs) and genu valgum
(knock-knees). Untreated, both can cause osteoarthritis of the knee in adulthood.
Genu varum is common among toddlers and usually resolves spontaneously by age 18 mo. If it persists or
becomes more severe, Blount disease (tibia vara) should be suspected, and rickets and other metabolic bone
diseases should also be ruled out (see Hypophosphatemic Rickets). Blount disease is due to a growth
disturbance of the medial aspect of the proximal tibial growth plate; genu varum and tibial torsion may occur.
Blount disease may occur in early childhood or in adolescence (when it is associated with overweight). Early
diagnosis of Blount disease is difficult because x-rays may be normal; the classic x-ray finding is angulation
(beaking) of the medial metaphysis. Early use of splints or braces can be effective, but surgery with or without

an external fixator is often needed.

Genu Varum (Bowleg)

DR P. MARAZZI/SCIENCE PHOTO LIBRARY

Genu valgum is less common and, even if severe, usually resolves spontaneously by age 9 yr. Skeletal
dysplasia or hypophosphatasia should be excluded. If marked deformity persists after age 10 yr, surgical
stapling of the medial distal
femoral epiphysis is indicated.

Genu Valgum (Knock Knee)

MEDICAL PHOTO NHS LOTHIAN/SCIENCE PHOTO LIBRARY

Knee dislocation

Anterior knee dislocation with hyperextension is rare at birth but requires emergency treatment. It may occur
with Larsen syndrome, which consists of multiple congenital dislocations (eg, elbows, hips, knees), clubfoot,
and characteristic facies (eg, prominent forehead, depressed nasal bridge, wide-spaced eyes), or with
arthrogryposis (see Arthrogryposis Multiplex Congenita ). The dislocation may be related to muscle imbalance
(if myelodysplasia or arthrogryposis is present) or intrauterine positioning. Ipsilateral hip dislocation often
coexists.

On examination the leg is extended and cannot be flexed more than a few degrees.

If the infant is otherwise normal, immediate treatment with daily passive flexion movements and splinting in
flexion usually results in a functional knee.

Tibial torsion

Tibial torsion can be external (lateral) or internal (medial) twisting. External torsion occurs normally with
growth: from 0 at birth to 20 by adulthood. External torsion is rarely a problem.
Internal torsion is common at birth, but it typically resolves with growth. However, an excessive degree of
torsion may indicate a neuromuscular problem. Torsion also occurs with Blount disease (see Congenital Hip,
Leg, and Foot Abnormalities : Genu varum and genu valgum). Persistent, excessive torsion can lead to toeing-
in and bowlegs.

To evaluate for tibial torsion, the angle between the axis of the foot and the axis of the thigh is measured with
the child prone and the knees flexed to 90. Typically the foot axis is 10lateral relative to the thigh axis. This
angle can also be measured by seating the child and drawing an imaginary line connecting the lateral and
medial malleoli.

Talipes equinovarus

Sometimes called clubfoot, talipes equinovarus is characterized by plantar flexion, inward tilting of the heel
(from the midline of the leg), and adduction of the forefoot (medial deviation away from the legs vertical
axis). It results from an abnormality of the talus. It occurs in about 2/1000 live births, is bilateral in up to 50%
of affected children, and may occur alone or as part of a syndrome. Developmental dysplasia of the hip
(see Congenital Hip, Leg, and Foot Abnormalities : Developmental dysplasia of the hip (DDHformerly
congenital dislocation of the hip)) is more common among these children. Similar deformities that result from
in utero positioning can be distinguished from talipes equinovarus because they can be easily corrected
passively.

Talipes Equinovarus
(Clubfoot)
MIKE DEVLIN/SCIENCE PHOTO LIBRARY

Treatment requires orthopedic care, which consists initially of repeated cast applications, taping, or use of
malleable splints to normalize the foots position. If casting is not successful and the abnormality is severe,
surgery may be required. Optimally, surgery is done before 12 mo, while the tarsal bones are still cartilaginous.
Talipes equinovarus may recur as children grow.

Talipes calcaneovalgus

The foot is flat or convex and dorsiflexed with the heel turned outward. The foot can easily be approximated
against the lower tibia. Developmental dysplasia of the hip is more common among these children. Early
treatment with a cast (to place the foot in the equinovarus position) or with corrective braces is usually
successful.
Talipes
Calcaneovalgus

Springer Science+Business Media

Metatarsus adductus

The forefoot turns toward the midline. The foot may be supinated at rest. Usually, the foot can be passively
abducted and everted beyond the neutral position when the sole is stimulated. Occasionally, an affected foot is
rigid, not correcting to neutral. Developmental dysplasia of the hip is more common among these children.
Metata
rsus Adductus

Springer Science+Business Media

The deformity usually resolves without treatment during the first year of life. If it does not, casting or surgery
(abductory midfoot osteotomy) is required.

Metatarsus varus

The plantar surface of the foot is turned inward, so that the arch is raised. This deformity usually results from
in utero positioning. It typically does not resolve after birth and may require corrective casting.
Metatarsus Varus

Springer Science+Business Media

Last full review/revision March 2014 by Simeon A. Boyadjiev Boyd, MD

Resources In This Article

Figure 1

Galeazzi sign.

Figure 2

Genu Varum (Bowleg)

Figure 3

Genu Valgum (Knock Knee)

Figure 4

Talipes Equinovarus (Clubfoot)

Figure 5

Talipes Calcaneovalgus
Figure 6

Metatarsus Adductus

Figure 7

Metatarsus Varus

1Musculoskeletal System
Diseases
Arthritis As we age, our joint tissues become less resilient to wear and tear
and start to degenerate manifesting as swelling, pain, and oftentimes, loss of
mobility of joints. Changes occur in both joint soft tissues and the opposing
bones, a condition called osteoarthritis. A more serious form of disease is called
rheumatoid arthritis. The latter is an autoimmune disease wherein the body
produces antibodies against joint tissues causing chronic inflammation resulting
in severe joint damage, pain and immobility.

Osteoporosis Porous bone. The bane of the


old, especially, women. The hard, rock-like quality of bone is dependent upon
calcium. When too much calcium is dissolved from bones or not enough
replaced, bones lose density and are easily fractured. Estrogen, the female sex
hormone, helps maintain proper calcium levels in bones. Once the ovaries stop
producing the hormone, women are at higher risk of developing osteoporosis. A
collapse of bony vertebrae of the spinal column results in loss of height and
stooped posture. Hip fractures are a common occurrence.

Osteomalacia Soft bones. If not enough calcium is deposited during early


childhood development, the bones do not become rock-hard, but rubbery. Both
adequate calcium in the diet and vitamin D, primarily, from normal sunlight
exposure or supplementation, are necessary for normal bone development.
Before vitamin supplementation to milk, rickets, another name for osteomalacia
in children, was common resulting in the classic bowed legs of the afflicted child.

Carpal tunnel syndrome People whose job involves repeated flexing of their
wrist (typing, house painting) may develop tingling and/or pain in their thumb,
index and middle fingers along with weakness of movements of the thumb,
especially, grasping an object. The main nerve for finely controlled thumb
movements passes through a bony/ligamentous canal on the bottom of the wrist.
Repetitive flexing movements may inflame and thicken the ligament over the
tunnel through the carpal (wrist) bones trapping and compressing the nerve.

Tendonitis Repeated strain on a tendon, attachment of a muscle to bone, can


inflame the tendon resulting in pain and difficulty with movement involving the
muscle. Tendons have a poor blood supply; therefore, they typically take a long
time to heal on the order of six weeks or more.

Rotator cuff tear Muscles surrounding the shoulder joint are involved in
rotating the shoulder with upper arm and hand forward and backward, among
other movements. The tendons of these muscles also contribute to the structural
strength of the shoulder joint. Hard, fast movements, such as in tennis and
baseball can tear one of these tendons resulting in pain and decreased mobility
of the shoulder. Surgery may be needed to repair a torn tendon.

Bursitis A bursa is a small, closed bag with a minimum amount of lubricatory


fluid that serves as a shock absorber where bones make close contact and to
minimize trauma and friction where tendons cross bones and joints. Inflammation
leads to pain and immobility in a joint area.
Muscular dystrophy Muscular dystrophy is a group of inherited diseases in
which the muscles that control movement progressively weaken. The prefix, dys-,
means abnormal. The root, -trophy, refers to maintaining normal nourishment,
structure and function. The most common form in children is called Duchenne
muscular dystrophy and affects only males. It usually appears between the ages
of 2 to 6 and the afflicted live typically into late teens to early 20s.

Myasthenia gravis Muscular weakness, profound. This is an autoimmune


disease that involves production of antibodies that interfere with nerves
stimulating muscle contractions. Face and neck muscles are the most obviously
affected, manifesting as drooping eyelids, double vision, difficulty swallowing and
general fatigue. There is no actual paralysis of muscles involved, but a rapid
fatiguing of function.

Lupus erythematosus An autoimmune disease wherein the body produces


antibodies against a variety of organs, especially connective tissues of skin and
joints. Mild Lupus may involve a distinctive butterfly-shaped rash over the nose
and cheeks. Mild lupus may also involve myalgia and arthralgia (remember these
words?) Severe or systemic lupus (SLE) involves inflammation of multiple organ
systems such as the heart, lungs, or kidneys. By the way, lupus means wolf in
Latin. Maybe a reference to the facial rash that might give a patient a wolf-like
appearance.