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NON LETHAL AND RARE TYPES

OF SKELETAL DYSPLASIA

DIASTROPHIC DYSPLASIA
an extreme shortening of all long bones of
the extremities associated with other
skeletal deformities which, taken as a
whole, are typical of this syndrome:
micrognathia, cervical kyphosis, persistent
extension limitation in elbow and knee
joints, club feet, ulnar diviation of hands,
shortened phalanges, and, in particular,
abduction of thumbs ('hitchhiker thumbs')
and big toes.

DIASTROPHIC DYSPLASIA

JEUNES SYNDROME
Asphyxiating thoracic dysplasia
a type of rare short limb skeletal dysplasia, which is
primarily characterised by a constricted long narrow
thoracic cavity, cystic renal dysplasia and characteristic
skeletal features. It is also sometimes classified as one
of theshort rib polydactyly syndromes

Radiologic features:
Skeletal
thoracic
short narrow elongated chest shape (can be bell shaped):
may be seen as anarrow fetal thoraxantenatally
high ridingclavicles("handlebarclavicles")
irregular costochondral junctions

JEUNES SYNDROME
other skeletal

dysplastic acetabula with flat acetabular roof


trident acetabula
short and flared illiac bones
ischial and pubic bones with medial and lateral spurs
premature closure of capital femoral epiphysis
short broad phallanges
short distal limbs (acromelicdwarfism)
polydactyly(often post axial): 14%
coned ephiphyses

Abdominopelvic
cystic renal disease
cystic pancreatic disease
hepatic dysfunction

JEUNES SYNDROME

HYPOCHONDROPLASIA
an autosomal dominant skeletal dysplasia
characterized by short extremities, short stature
and lumbar lordosis, usually exhibiting a
phenotype
similar
to
but
milder
than
achondroplasia (ACH).
a decreased rate of development of the femora
(femur length <fifth centile), while biparietal
diameter, abdominal circumference, and foot
length were within normal limits

HYPOCHONDROPLASIA

JARCHO-LEVIN SYNDROME
A congenital disorder of the skeleton inherited in
an autosomal recessive pattern1. Jarcho-Levin
syndromeis a specific spondylocostal and
spondylothoracic dysostosis characterized by the
disorganization of:
The spine: with hemi vertebrae and/or fused
vertebrae.
The thorax: a crablike appearance of the rib cage.

JARCHO-LEVIN SYNDROME

severe disruption of the normal spine with kyphoscoliosis and


segmentation abnormalities.

METATROPHIC DWARFISM
characterized by short limbs with limitation and
enlargement of joints and usually severe
kyphoscoliosis. Radiologic features include severe
platyspondyly, severe metaphyseal enlargement,
and shortening of long bones
Synonyms:Metatropic
Dwarfism
type
II;
Metatropic Dysplasia type II; Pseudo-metatropic
Dwarfism; Kniest syndrome, Swiss cheese
cartilage syndrome, Kniest chondrodystrophy

METATROPHIC DWARFISM
Kniest syndrome is characterized by the involvement of the: 2,4
Spine (platyspondyly and coronal or vertical clefting of the
vertebral bodies with eventual kyphoscoliosis and lumbar
lordosis),
Pelvis (small iliac bones with increased acetabular angles;
inadequate ossification of pubic rami).
Tubular bones (short and bent bones, metaphyseal flaring,
contracture of fingers and premature osteoarthritis)
Thorax (short thorax, may be broad or narrow).
Craniofacial abnormalities [may be present; and include a
deep posterior fossa, tracheomalacia, occipitoatlantal
instability, midface hypoplasia and cleft palate].
Eyes [proptosis, myopia, glaucoma, vitreoretinal degeneration,
retinal detachment, dislocated lenses]
Ears [chronic otitis media, deafness].
Inguinal hernia may be present.

METATROPHIC DWARFISM

ELLIS-VAN CREVELD SYNDROME


It involves numerous anomalies including:
Post-axialpolydactyly
Congenital heart defects(most commonly anatrial
septal defectproducing
a
common
atrium,
occurring in 60% of affected individuals)
Teeth present at birth (natal teeth)
Fingernaildysplasia
Short-limbeddwarfism,mesomelicpattern
Shortribs
Cleft palate
Malformation of thewrist bones(fusion of the
hamateandcapitatebones).

ELLIS-VAN CREVELD SYNDROME

ELLIS-VAN CREVELD SYNDROME

Antenatal and postnatal fetal echocardiographic images showing


partial atrioventricular canal defect

SPONDYLO EPIPHYSEAL DYSPLASIA


shortening of all the fetal long bones, with bowing
of the femora and humeri, clubfeet, and small
thoracic cage

DYSSEGMENTAL DYSPLASIA
severe
limb
shortening
and
vertebral
segmentation and fusion defects (anisospondyly)
Xrays and DNA analysis of the HSPG2 gene are
important for the confirmation of the diagnosis
and for the preimplantation and prenatal
diagnosis in pregnancies at risk

DYSSEGMENTAL DYSPLASIA

Ultrasonographic demonstration of disorganization of the spinal column.


Note the haphazard arrangement of the vertebral bodies in the lumbar region

LARSEN SYNDROME
an extremely rare disorder,often classified as a
type of osteochondrodysplasia
It is characterised by many features including:
joint hypermobility
multiple congenital dislocations (typically knees)
characteristic facies
brachycephaly
cleft palate
club feet

OTOPALATODIGITAL SYNDROME
Subdivisions of Otopalatodigital Syndrome
Type I and II
OPD Syndrome, Type I
typically have short stature, an incomplete closure
of the roof of the mouth (cleft palate), a downward
slant of the opening between the upper and lower
eyelids, hearing loss due to a defect of the middle
ear (conductive hearing loss), and abnormal
shortness of the fingers and toes

OTOPALATODIGITAL SYNDROME
OPD Syndrome, Type II
typically
more
severely
affected.
Major
characteristics in males with this disorder may be a
small head, broad forehead, flat bridge of the nose,
wide space between the eyes, small mouth, cleft
palate, downward slant of the opening between the
upper and lower eyelids, small mouth, small jaw,
fingers that are bent and overlap, short fingers and
toes, curved long bones of the forearms and legs
and occasionally mental retardation

OTOPALATODIGITAL SYNDROME