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Book Reading Fetomaternal

Diagnostic Imaging Obstetric

Woodward: Section 9
Approach to Skeletal Dysplasias
Sarlita Indah Permatasari

Moderator: Dr. Hj. Putri Mirani, SpOG(K)



Several hundreds different types of disorders with significant

skeletal involvement are know, only a fraction of which can be
reliably diagnosed prenatally.

The skeletal dysplasia are a heterogenonous group of relatively

rare conditions involving generalized abnormal bone growth.

Once abnormal development is suspected, this should be followed

by a determination of the severity of the disorder.
Is the condition is lethal or not?
Is pregnancy termination an option for a couple?
What about resuscitative measures at the time of delivery?

However, a multidisciplinary approach to the prenatal diagnosis

of comples fetal abnormalities, including skeletal dysplasias, is
highly recommended.
As with imaging of any fetal structures, solid knowlegde of what is
normal variation versus abnormal is critical.
A systematic and thorough evaluation of the fetus following established
guidelines is essential.
When shortened long bones are suspected, all the long bones (bilateral)
should be measured and compared to published standards.

Other skeletal elements that should be measured include the calvarium

(biparietal diameter and circumference), chest, and abdominal
circumference. Measurement of the foot, scapular, and clavicular
lengths is also recommended.
Calculation of various ratios may assist in the diagnosis of a skeletal
dysplasias as well as determination of lethality.
Begins with evaluating the long bones.
Sometimes bones that look short are not, and an evaluation may
actually exclude a skeletal dysplasia.
A helpful ratio is the femur : foot length, which is 1:1. a ratio less
than 1:1 is suggestive of skeletal dysplasia.

Long bones that are less than 5th percentile but still within 2-3
standard deviations of the mean have a good likelihood of being
either a normal variation or a nonlethal skeletal dysplasias.
Long bones that are 4+ standard deviations below the mean for
gestation are likely to be associated with skeletal dysplasias.

Severe shorteneing is usually seen in lethal disorders.

Proximal shortening (humerus, femur) is rhizomelia whereas
mesomalia is shortening of the middle segment of the limb
(radius/ulna or tibia/fibula)

Acromelia refers to small hands and/or feet

Micromelia refers to all segment being shortened.

Micromelia is more common in the more severe, often lethal,

skleletal dysplasias.
The long bones should be evaluated with respect to their shape.

Are they curved or angulated? Crumpled appearing of fractured? Are

the metaphyses broad or irregular? Does the ossification appear

The finding of underossification with fractures is an important

distinction that may lead to diagnosis, most commonlyl one of
osteogenesis imperfecta.
Defective ossification may also be seen in hypophosphatasia and

Severe limb shortening in the first or second trimester is very likely

to be skeletal dysplasias, frequently lethal, whereas third trimester
mold long bone shortening mat be either familial, a normal
variation, or associated with growth restriction of the fetus.

In addition, nonlethal skeletal dysplasias such as achondrophasia

may be suspected when mild long bone shortening is found on
ultrasound in the latter part of pregnancy.
Platyspondyly (flattening of the vertebral bodies with increased
space between the vertebrae) is best observed on sagittal view of
the spine, may be difficult to asses by ultrasound early in gestation.

Abnormal curvaturevof the spine, such as lumbar kyphosis or

scoliosis, may also be seen in many skeletal dysplasias.

What about the distal spine? If missing or hypoplastic, caudal

dysplasias may be present, with diabetic embryopathy included in
the differential diagnosis.

Is the spine normally ossified? Achondrogenesis is commonly

associated (often severe) underossification of the spine.
Abnormalities of the skull are very common in the skeletal

Craniosynostosis of varied sutures may be found in many skeletal

dysplasias and often explains the abnormal skull shapes.

Complex craniosynotosis may result in kleeblattschadel (cloverleaf

skull) which is common in type II thanatophoric dysplasia as weel as
some other nonskleletal syndromes, such as Pfeiffer syndrome.
There may be the appearance of a shelf where the smaller chest
connects to the larger, protuberant appearing abdomen.
This difference may be striking, especially in the more lethal
conditions, and it predicts a high risk of pulmonary hypoplasias.

The ribs are also evaluated when looking at the chest. If very short,
the chest will be small; this is more commonly seen in lethal skeletal

Fractures of the ribs may appear as displaced bone or as beading

due to callus formation.
Short digits or brachydactyly are very common in skeletal
The great toe or thumbs may be broad or deviated.
Polydactyly (extra digits) and syndactyly (fused digits) are less
common, but will provide clues regarding possible diagnoses.
Surfaces rendering by 3D ultrasound may help delineate phenotypic
features useful in identification of specific syndromes; It may also
help counseling families.

Echocardiography in cases with suspected cardiac defects is also

Evaluation of skeletal dysplasia generally begins with long bones.
It is important to know the normal appearance at various gestational ages.

A normal 20-week fetus shows

This 14 wks fetus has a normal appropriate placement of calipers at
appearing, straight femur the ends of the diaphysis for

There is no evidence of
metaphyseal flaring or

A calcified distal femoral

epiphysis (absent here) would be
evident by about 32 wks.
edema Severe micromelia

Abnormal foot

3D ultrasound of the lower extremities Ultrasound of the lower extremities of

of a fetus with campomelic dysplasia a fetus with achondrogenesis
shows the typical anterior tibial bowing. illustrates several fetures of a lethal
skeletal dysplasia
a shortened distal
A very short, curved extremity and
(telephone receiver) irregular, poorly
femur ossified long

Ultrasound of a mid-
Ultrasound of a 3rd trimester fetus
trimester fetus
with type I thanatophoric dysplasia

Typical findings seen in lethal osteogenesis imperfecta

Gentle curved and
tapered appearance
The sacral Normal ossification
spine is

At 20 weeks sacral
Normal developmental ossification is well seen
finding in early gestation

Spinal alignment and ossification often gives

important clues to a dysplasia.
Sagital ultrasound of a 14-week fetus shows the
normal appearance of the early spine.
Compared with
Lumbar kyphosis the abdomen

Very small

With flat vertebral Which appears protuberant in this
bodies and increased fetus with thanatophoric dysplasiia.
space between the
Common finding in lethal skeletela

Sagittal ultrasound of a fetus with In addition to evaluating the spine, the

thanatophoric dysplasia sagittal plane is also used to evaluate the
chest/abdomen contour.
with the Abnormally Quite
abdomen small chest small

Absent spine
Very short and
crumpled ribs

Sagittal ultrasound of a fetus

with type IA achondrogenesis Sagittal ultrasound of a 3rd trimester
fetus with achondrogenesis
4 fingers, each with 3
distinct phalanges 5 toes


This view of a fully open hand is often more

easily seen earlier in gestation. The hand at
rest is often partially closed later in

The hands and feet may also be affected in a skleletal dysplasia.

The 14-week fetus shows normal appearance of a fetal hand and foot
Severe brachydactyly
fingers frequently remain separated

Trident hand

Ultrasound shows abnormal hand

with short fingers all of the same Ultrasound of the hand of a fetus with
length. achondroplasia. Very similar to that
seen in lethal thanatophoric dysplasia
Typically seen in fetuses with
thanatophoric dysplasia, a lethal
skeletal dysplasia.

It is also seen in achondroplasia

Severe brachydactyly As long than the
entire leg

The foot is also short and broad 1:1

Severe micromelia
with a foot length

Ultrasound of the foot of 3rd A normal femur : foot length ratio is

trimester fetus with Kniest 1:1; a ratio less than this suggests a
sydrome skeletal dysplasia
A cystic hygroma
A normal shape with 2 of
the normal unfused
cranial sutures shown

The calvarium should be evaluated for both shape

This is common in some
and ossification.
severe skeletal dysplasias
Contour abnormalities are very common in skeletal
dysplasias as well as other disorders.

Craniosynostosis may also present with anusual

Low set ear Severe

Abnormally round
calvarial shape


Coronal ultrasound illustrates Both of these features suggest

typical features seen in a craniosynostosis associated with
number of craniosynostosis shallow orbits.
syndromes as well as in type II
thanatophoric dysplasia
of the skull

d calvarium
Very short

Thin ribs & beaded

Axial ultrasound of 3rd trimester fetus Sagittal radiograph of a stillborn 3rd

trimester fetus with type II perinatal
lethal osteogenesis imperfecta.
Normal maxilla,
mandible, and nasal Mild frontal
bone bossing
Short nose


In addition to the general skull

shape, the facial profile may Sagittal ultrasound of a 3rd trimester
give added information. 20 fetus with Kniest dysplasia shows a
weeks fetus. very abnormal profile.
Prominent hypoplasia
soft tissue mid-face
of the lips hypoplasia


Sagittal ultrasound of another 3rd Sagittal ultrasound of another fetus

trimester fetus. with a lethal skeletal dysplasia
The calvarium is small and round illustrates what us a common theme
when evalutaing the abnormal facial
profile in this class of disorders.
Frontal bossing Frontal bossing
nasal brigde Depressed
nasal brigde


Short nose,
very short neck

Sagittal ultrasound of a fetus

Sagittal ultrasound of a fetus with
with thanatophoric dysplasia
achondroplasiashows a very similar
(TD), the nost prenatally
profile to TD.
diagnosed skleletal dysplasia.