11-Fetal skeletal system part 1 Dr Ahmed Esawy

‫الرحيم‬ ‫الرحمن‬ ‫هللا‬ ‫بسم‬

Dr. Ahmed Esawy
MBBS M.Sc
MD
Dr/AHMED ESAWY

1ST LECTURE OF FETAL
SKELETAL SYSTEM .
normal,basic paramters
and algorithms
Dr/AHMED ESAWY

Sonography of Skeleton
Embryology
– Appendicular skeleton ; GA 4 wk
• Pectoral and pelvic girdles
• Extremities
– Axial skeleton
• Vertebraes and ribs ---- GA 4 wk
• Skull ---- GA 5 wk
• Sternum ---- GA 6 wk
Dr/AHMED ESAWY

• Femur length for GA assessment
• Appropriate plane
– U/S beam should be perpendicular to the bone
– Measurement is made along the femur diaphysis
– Exclude the distal femoral diaphysis
Dr/AHMED ESAWY

• In second trimester
– Mild femoral shortening (<90% of predicted)
risk of Trisomy 21 is %
– Mild humeral shorting
risk of Trisomy 21 is 3%
• In third trimester
– FL – foot length ratio <0.9 risk of skeletal dysplasia
Dr/AHMED ESAWY

Radius, Ulna
Proximal end Ulna
longer than Radius
Clavicle ,Scapular, Humerus
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•Carpals - hypoecho, no
ossification
•Metacarpals and
phalanges ; 2nd trimester
Dr/AHMED ESAWY

• GA 22-24 wk ; Talus and
Calcaneous
• 2nd trimester ; metatarsals
and phalanges
Dr/AHMED ESAWY

Imaging of intrauterine
Skeletal Dysplasia
Dr/AHMED ESAWY

Skeletal Dysplasia
Types:
• Thanatophoric Dwarfism
• Achondroplastic Dysplasia
• Osteogenesis Imperfecta
• Trisomy 18
• Meckel- Gruber Syndrome
• Down Syndrome
 limb deficiency
chondrodysplasia punctata,
diastrophic dysplasia
Dr/AHMED ESAWY

Diagnosis with US
If the limbs are disproportional , the following
questions should be addressed:
1. Does the abnormality affect the proximal (rhizomelic),
middle (mesomelic), or distal (acromelic) segment?
2. Is polydactyly, ectrodactyly, clinodactyly, or syndactyly
present?
3. Are there any fractures, curved bones, or joint
deformities, or clubbing of the foot or hand?

4. Are metaphyseal changes present?
5. Is there a premature appearance of ossification
centers?
6. Are there any hypoplastic or absent bones?

Diagram illustrates a diagnostic algorithm for use in
fetuses with severe limb shortening and normal
mineralization. OI = osteogenesis imperfecta.
Dr/AHMED ESAWY

fetuses with moderate limb shortening and normal
mineralization. OI = osteogenesis imperfecta.
Dr/AHMED ESAWY

Diagram illustrates a diagnostic algorithm for use in fetuses with
mild limb shortening,limb bone agenesis and normal
mineralization. OI = osteogenesis imperfecta
Dr/AHMED ESAWY

Diagram illustrates a diagnostic algorithm
for use in fetuses with normal or shortened limbs and
decreased mineralization. OI = osteogenesis imperfecta
Dr/AHMED ESAWY

FL/AC > 0.24 from 21 wks on
FL/AC : (22 -+ 4%)
Fl/BPD (79 ± 6%)
An FL/HC ratio < 3 SD below the mean
suggests a skeletal dysplasia
GA (weeks) --- BPD/FL ratio
15 --------------------- 1.93
16 --------------------- 1.93
17 --------------------- 1.76
18 --------------------- 1.74
19 --------------------- 1.69
20 --------------------- 1.58
21 --------------------- 1.54
22 --------------------- 1.47Dr/AHMED ESAWY

• FL/Head Circumference (HC) :An FL/HC ratio < 3 SD
below the mean suggests a skeletal dysplasia
• The femur length-abdominal circumference ratio
(<0.16 suggests lung hypoplasia - lethal outcome)
• femur length-foot length ratio (normal = 1
, <1 suggests skeletal dysplasia/Trisomy 21) .
Dr/AHMED ESAWY

• Fetal foot length
– Approximately equal to the FL length throughout
gestation
– Fetal foot length correlates with gestational age
– Fl-foot length ratio should be 1
– Fl-foot length ratio<0.9: skeletal dysplasia
– Fl-foot length ratio 0.9~1.0: constitutional small
fetus or symmetric IUGR
Dr/AHMED ESAWY

Abnormal FL/FOOT LENGTH 55%
Dr/AHMED ESAWY

• The FL of dwarfs are at least 2-3 SDs below the
mean, amounting to 4-5 weeks behind the
dates. Abnormality in the shape of the limb
will also be present. Remember the lateral
surface of the femur is always straight and the
medial surface is always curved.
Dr/AHMED ESAWY

Thorax
•The chest circumference and cardiothoracic ratio should
be measured at the level of the four-chamber view of the
heart.
• ~ 11 weeks : 0.38
• ~ 17 - 20 weeks : 0.45
• term : 0.5
• A chest circumference less than the 5th percentile for
gestational age has been proposed as an indicator of
pulmonary hypoplasia.

If the thorax is mainly affected , the following
questions should be addressed:
1. Is the thorax extremely small (thanatophoric dysplasia)?
2. Is the thorax long and narrow (Jeune syndrome)?
3. Are the ribs extremely short (short-rib polydactyly)?
4. Are fractures present (osteogenesis imperfecta type II)?

5. Is there clavicular aplasia, hypoplasia, or partitioning
(cleidocranial dysostosis)?
6. Is the scapula normal or abnormal (camp-tomelic
dysplasia)?
7. Are there any gaps between ribs (Jarcho-Levine
syndrome)?

•parameters used are a
•1-chest circumference-abdominal circumference ratio less than
the 5th percentile ,The normal thoracic/AC ratio (+ 2 SD) is 0.89 +-
0.06
•chest circumference/HC ratio (+ 2 SD) is 0.80 (+- 0.12).
•chest area, a heart area-chest area ratio less than the 5th
percentile,
• chest-trunk length ratio less than 0.32 ,

Ultrasonography
• Thoracic dimension
– Hypoplastic thorax(lethal form, pulmonary dysplasia)
– TC-AC ratio>0.89
: benign or asymptomatic neonatal course
Dr/AHMED ESAWY

Chest length/trunk length CL/TL
Dr/AHMED ESAWY

Ultrasonography
• Thoracic dimension
– Hypoplastic thorax(lethal
form, pulmonary
dysplasia)
– TC-AC ratio>0.89
: benign or asymptomatic
neonatal coarse
Dr/AHMED ESAWY

Chest Circumference
thantophoric
dysplasia
Chest
Circumference/
AC >2.5 SD
Dr/AHMED ESAWY

•Hypoplastic thorax
•thanatophoric dysplasia,
•achondrogenesis,
•hypophosphotasia,
•camptomelic dysplasia,
•chondroectodermal dysplasia,
•osteogenesis imperfecta,
•short-rib polydactyly
•lead to pulmonary hypoplasia,.

Chest circumference
Dr/AHMED ESAWY

• Thanatophoric dysplasia .significant narrowing
of the chest
Dr/AHMED ESAWY

•The shape and integrity of the thorax should be
noted. Abnormal rib size and configuration are
also seen in patients with lethal skeletal
dysplasias.
•The clavicles should be measured, since absence
or hypoplasia of the clavicles is seen in
cleidocranial dysplasia. The presence of the
scapula should also be noted, since its absence is
a useful defining feature of camptomelic
dysplasia.

Hypoplastic scapula
Dr/AHMED ESAWY

Diagram illustrates a diagnostic algorithm for use in fetuses with
suspected skeletal dysplasia
and thoracic abnormalities. OI = osteogenesis imperfecta.
Dr/AHMED ESAWY

Spine
– 3 primary ossification
• 1 Centrum (body)
– Ossified from lower T  L
• 2 posterior neural arch
• Lamina ossification
– Cervical GA 18-19 wk
– Thoracic GA 20-22 wk
– Lumbar GA 22-24 wk
– Sacral arch GA ~ 25 wk Rib
Ribs / Spine / Pelvis
Dr/AHMED ESAWY

Appropriate plane for spine sonography
– Longitudinal saggital plane
– Longitudinal coronal plane
– Cross-sectional plane
Parallel of
posterior
element
Dr/AHMED ESAWY

Looking for
• Alignment
• Skin covering
• Abnormal outward faring of the posterior neural arch
ossification centers
• the relative total length
• presence of curvature to exclude scoliosis.
• Mineralization of vertebral bodies and neural arches.
• Vertebral height for platyspondyly (flattened vertebral body
• shape with reduced distance between the endplates), which is typically seen in thanatophoric dysplasia)
Dr/AHMED ESAWY

If the spine is mainly affected, one should ask the
following questions:
1.Is the spine short because of missing parts (eg, sacral
agenesis)?
2. Is there abnormal curvature?
3. Is there shortening of vertebral bodies?

4. Are all parts of the spine equally affected (eg,
achondrogenesis)?
5. Is platyspondyly present (thanatophoric
dysplasia)?
6. Is the spinal canal of normal width?
7. Are any meningomyeloceles present?

Spine and Pelvis
• Platyspondyly
Dr/AHMED ESAWY

• Jarcho-Levin syndrome is a genetically
heterogeneous disorder characterized by
vertebral and rib abnormalities. US findings
include misalignment of the spine due to
hemivertebrae or fused vertebrae and
misaligned ribs
Dr/AHMED ESAWY

• Jarcho-Levin syndrome at 13 weeks gestation.
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• Hemivertebra and block vertebra.
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• Hemivertebra and
block vertebra.
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Short ribs in OI fetus
Chest hypoplasia
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Pelvis
•The shape of the pelvis
•limb-pelvic hypoplasia; femoral hypoplasia-unusual face
syndrome (hypoplastic acetabulae, constricted iliac base with vertical ischial
• axis, and large obturator foramina)
•achondroplasia (flat, rounded iliac bones with lack of iliac flaring; broad,
• horizontal superior acetabular margins; and small
• sacrosciatic notches.

Pelvis
Ossification
–Iliac early 2nd trimester
–Ischial 4 mo
–Pubic 6 mo

Skull
•Head circumference and biparietal diameter
•The shape,
•mineralization,
•degree of ossification of the skull
•Interorbital distance should be measured by using the
binocular diameter and interocular diameter to
exclude hyper- or hypotelorism.

skull
CI : (74 – 83)
H.C/A.C exceeds 1 before 32wk
H.C/A.C 1 at 32-34 wks
H.C/A.C below 1 after 34 wkd

fetuses with suspected skeletal dysplasia
and facial abnormalities. OI = osteogenesis imperfecta.
Dr/AHMED ESAWY

fetuses with suspected skeletal dysplasia and skull
abnormalities. OI = osteogenesis imperfecta.
Dr/AHMED ESAWY

•Other features
•micrognathia,
•short upper lip,
•abnormally shaped ears,
•frontal bossing,
•cloverleaf skull.
•brachycephaly (anteroposterior shortening of the head),
•scapocephaly (lateral flattening of the head), and
craniosynostoses (premature fusion of the sutures),

• The inter-ocular distance (IOD) is a measurement between the
two medial canthi of each eye
hypertelorism
Dr/AHMED ESAWY

• Clover leaf skull in 3rd trimester
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LECTURE OF FETAL
SKELETAL SYSTEM .
DYSPLASIA
Dr/AHMED ESAWY

Standardized ultrasound approach
to the skeletal dysplasias
Dr/AHMED ESAWY
Gestational age based on last menstrual period or first trimester
ultrasound
Length of the long bones (femurs, humerus, radius, ulna, tibia, fibula,
and clavicle)
Shape of long bones (straight, curved, bilateral vs. unilateral)
Appearance of the metaphyseal ends (spikes, irregularities)
Echodensity of long bones (well mineralized, poorly mineralized)
Foot size and shape
Hands (number of digits, shape of phalanges, mineralization patterns)
Circumferences (head, abdomen, and chest)
Lateral view of the chest
Gestational age based on last menstrual period or first trimester
ultrasound
Length of the long bones (femurs, humerus, radius, ulna, tibia, fibula,
and clavicle)
Shape of long bones (straight, curved, bilateral vs. unilateral)
Appearance of the metaphyseal ends (spikes, irregularities)
Echodensity of long bones (well mineralized, poorly mineralized)
Foot size and shape
Hands (number of digits, shape of phalanges, mineralization patterns)
Circumferences (head, abdomen, and chest)
Lateral view of the chest

Standardized ultrasound approach
to the skeletal dysplas
Dr/AHMED ESAWY
Mineralization and shape of the cranium
Mineralization and shape of the vertebral bodies
Size and shape of scapula
Presence of the secondary epiphyses (calcaneus [>20 wk] and knee
epiphyses [>28 wk])
Mandibular size and shape
Fetal profile (frontal bossing, presence of nasal bone, micrognathia)
Abnormal posturing of the extremities
Other congenital anomalies
Evaluation of amniotic fluid volume (hydramnios)
Hydrops

indicators of a poor prognosis in
skeletal dysplasias
Dr/AHMED ESAWY
1. Small Chest Size A chest circumference < 5th percentile for gestational age is a
indicator of pulmonary hypoplasia
chest-to-abdominal circumference ratio of < 0.6 is strongly suggestive of a lethal disorde
2. Severely Shortened Long Bones
3. Abnormally Bent or Curved Bones thanatophoric dysplasia
4. Evident at an Early Age as achondrogenesis ratio of < 0.16 results in a lethal outcome
6. Fetal Hydrops severe of the skeletal dysplasias, as well as aneuploidies
5. Low Femur Length-to-Abdominal Circumference Ratio

Skeletal Dysplasia
“Dwarfism”
• Disproportionately short stature
Dr/AHMED ESAWY

Thanatophoric Dysplasia AD
•The term “thanatophoric dysplasia” is derived from the
Greek word thanatophoros, which means “bearing
death.”
•Thanatophoric dysplasia is the most common lethal
skeletal dysplasia. Langer et al separated this condition
into two types:

Thanatophoric dysplasia is characterized by
disproportionate dwarfism with very short extremities,
which are bowed in type 1 and may be straight in type 2.

Thanatophoric dysplasia
Thanatophoric dysplasia is a lethal skeletal dysplasia divided into two subtypes.
Type I is characterized by
• extreme rhizomelia,
• bowed long bones,
• narrow thorax,
• relatively large head, Polyhydramnios
• normal trunk length
• cloverleaf skull.
• The spine shows platyspondyly,
• the cranium has a short base,
• foramen magnum is decreased in size.
• The forehead is prominent,
• hypertelorism
• saddle nose may be present.
• Hands and feet are normal, but fingers are short.
Type II is characterized by
• short, straight long bones and cloverleaf skullDr/AHMED ESAWY

• scan of a 21 week fetus with thanatophoric
dysplasia type I.
Dr/AHMED ESAWY

Dr/AHMED ESAWY
scan of a 21 week fetus with thanatophoric
dysplasia type I..

Hypoplastic thorax in a fetus
with thanatophoric dysplasia.
Cloverleaf skull in a fetus with
thanatophoric dysplasia.

Dr/AHMED ESAWY
Normal limb echogenicity with severe shortening and bowing of the limbs, a
narrow chest, and macrocephaly suggest thanatophoric dysplasia type 1

Dr/AHMED ESAWY
Postmortem radiograph shows bowed long
bones (white arrows), a narrow chest, and
platyspondyly (black arrow).

oversized head
with a
cloverleaf
shape)
temporal bulge trident” hand
short hypoplastic thorax temporal bulge
occipital
encephalocele
Dr/AHMED ESAWY

• shows increased
number of deep
transverse fissures
in inferomedial
aspect of temporal
lobes (arrow).
Dr/AHMED ESAWY

• Sagittal view of
the face: minimal
frontal bossing.
Dr/AHMED ESAWY

Several views of
the proximal and
medial segments
demonstrating
severe shortening
(rhizo- and
mesomelia).
Dr/AHMED ESAWY

• view of the hand
demonstrating
short, stubby
fingers
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• Platyspondyly.
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• Discrepancy
between the
small chest and
the larger
abdomen
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• Absence of cloverleaf shape
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the femurs are curved (telephone receiver)
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severe shortening of femur (F) and tibia
generalized severe
micromella and constricted
thorax
small thorax
Dr/AHMED ESAWY

The major radiologic features of osteogenesis imperfecta are
generalized osteoporosis,
retarded calvarial bone formation,
•wormian bones,
•collapsed vertebral bodies,
•rib fractures,
•thin cortex in tubular bones,
•thin shafts with fractures and bowing deformities .
Osteogenesis Imperfecta

The ultrasound features are
"too-well seen" anatomy - the poor mineralization allows
sounds waves to pass through the bones easily
• short, bent or crooked bones, as a result of multiple
fractures
• compressible skull

scan of a 20 week fetus with osteogenesis imperfecta type II.

Dr/AHMED ESAWY
The decreased skull
ossification,
which allows easy
visualization
of the intracranial
structures
the femoral
irregularity and
angulation
(arrow in a), a
finding that is
consistent with
fractures
Irregular shape of the ribs
(arrow in c), a finding
that also suggests
fractures
Postmortem
radiograph shows
wavy ribs (black
arrow) and irregular
deformed long bones
(white arrows) due to
multiple fractures.

The fetal movements may be reduced .
The skull may be thinner than usual, and the weight
of the US probe may deform the head quite easily.
In severe cases, the cranial vault has a wavy outline
and is easily compressed.

Type III is a progressively deforming condition
Dr/AHMED ESAWY

• Type IV is an autosomal dominant condition with
variable expressivity. Severely affected individuals may
have deformities of the long bones due to fractures.
Dr/AHMED ESAWY

shortened femur shows clear
midshaft fractur
poorly mineralized calvanium relative greater hortening
of lower extremities
Marked demineralizatlon
of skull
Dr/AHMED ESAWY

Markedly short, thickened, and
poorly mineralized humeru
deformation of rib cage
(arrowheads) with posterior
constriction
multiple fractures
and secondary
deformities and no
calvarial
mineralization.
Humeri are short and
thick
Dr/AHMED ESAWY

• Osteogenesis type IIA. Shortened femur
(8 mm) with multiple fractures.
Dr/AHMED ESAWY

• Osteogenesis type IIA. Stippled ribs, indicating
multiple fractures.
Dr/AHMED ESAWY

• Osteogenesis Imperfecta Type IIA. The
absence of skull calcification permits
enhanced visualization in the near field.
Dr/AHMED ESAWY

Findings can include
•craniofacial dysmorphism,
•ocular abnormalities,
•cutaneous abnormalities,
•asymmetric shortening of the limbs,
•and joint contractures
Chondrodysplasia Punctata
calcific stippling of epiphysis

•Prognosis is extremely poor, with severe mental
retardation, spastic tetraplegia, and thermoregulatory
instability.
Radiologic features include
•very short humeri
•relatively short femora
•with some metaphyseal splaying.
•Punctate calcification of epiphyses at the ends of long
bones is present and may be seen prenatally

•Facial features include a
flat face with a small “saddle” nose.
There are multiple contractures.
•Ascites and polyhydramnios have been reported.

flattening of the nose
punctate irregular
epiphyses in the long
bones
small head with a flat fac
stippled epiphyses in the long
bones

Diastrophic Dysplasia
•The term “diastrophic” implies twisting and describes the
twisted habitus in diastrophic dysplasia .
•The mode of inheritance is autosomal recessive
Micromelic dwarfism with
•clubfeet,
•hand deformities (abducted or hitchhiker’s thumb),
•multiple flexion contractures,
•scoliosis are present.

The bones are characterized by
•crescent-shaped flattened epiphyses,
•short and broad femoral neck,
•Shortening metaphyseal widening of the tubular bones.
•There is irregular deformity and shortening of the
metacarpal bones, metatarsal bones, and phalanges,
•abduction of the great toes and clubfeet.

SPINE
•Progressive thoracolumbar kyphoscoliosis,
•cervical kyphosis,
•and irregular deformities of vertebral bodies .
SKULL
•micrognathia
•cleft palate are frequently observed .

hitchhiker’s
thumb
bilateral
clubfeet
sloping
forehead
the metaphyseal widening
of long bones (double
arrows) and irregularity
of the metacarpal and
metatarsal bones (single
arrow).
marked micrognathia

LECTURE OF FETAL
SKELETAL SYSTEM .
DYSPLASIA-B
Dr/AHMED ESAWY

Achondrogenesis
• This is a lethal skeletal dysplasia with a birth
prevalence of about 1 in 40 000. The
characteristic features are
• In type I, AR, there is poor mineralization of both
the skull and vertebral bodies as well as rib
fractures.
• In type II, there is hypomineralization of the
vertebral bodies but normal mineralization of the
skull, and there are no rib fractures.
Dr/AHMED ESAWY

Achondrogenesis
• • severe micromelia
• • fetal hydrops, polyhydramnios
• • very short beaded ribs
• • deficient or absent vertebral ossification
• • barrel-shaped narrow chest
• distended abdomen
• short trunk
• large head.
Dr/AHMED ESAWY

Dr/AHMED ESAWY
14 week scan of a fetus with achondrogenesis type 1B. The thoracic cage is
extremely narrow, and there is a large cystic hygroma. There was oligohydramnios in
this case, as the woman presented with premature rupture of membranes

ACHONDRO
GENESIS
TYPE II
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Achondroplastic Dysplasia
• Autosomal Dominant
• If Homozygous:
• US dx:
– Rhizomelia
– “Trident”
– Nml ossification
Dr/AHMED ESAWY

Dr/AHMED ESAWY
Achondroplasia
AD hereditary condition due to retarded ↓ endochondral bone formation while
periosteal bone formation proceeds normally.

Dr/AHMED ESAWY
The ultrasound features
normal 19 week morphology scan
drop off in growth of the long bones in the 3rd trimester
polyhydramnios
short limbs (rhizomelic, short hands and fingers)
lumbar lordosis,
macrocephaly with frontal bossing and depressed nasal
bridge, saddle nose

Dr/AHMED ESAWY
scan of a 33 week fetus with achondroplasia. The bones are short but straight

Dr/AHMED ESAWY
scan of a 33 week fetus with achondroplasia. The cranium is relatively
large, and frontal bossing is evident on the profile view

Dr/AHMED ESAWY
scan of a 33 week fetus with achondroplasia. The chest is a little small,
but not to the extent seen in lethal dysplasia. Note the excessive liquor

Achondroplasia
• Note the frontal
bossing that
can be picked up
even by 2D scan
of fetal face
Dr/AHMED ESAWY

• Abnormal head
shape:
brachycephaly
with starting
craniosynostosis
Dr/AHMED ESAWY

• Characteristic profile
and head shape
(prefrontal edema,
frontal bossing, typical
appearance of nasal
bridge (midface
hypoplasia) and short
cranial base).
Dr/AHMED ESAWY

• Bell-shaped" trunk
(narrow thorax and
distended
abdomen), frontal
bossing. Note the
polyhydramnios.
Dr/AHMED ESAWY

• Note the significant
difference in
circumferences of
abdomen and thorax
(along with relative
cardiomegaly)
Dr/AHMED ESAWY

• Normal kidney
size and
sonographic
pattern
(enabling better
differential
diagnosis).
Dr/AHMED ESAWY

• Absence of
polydactyly
(helping to
differentiate the
condition).
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• Short femur
length=581mm,
<5centile, fibula &
tibia. Humerus
(=523mm, < 2centile
Dr/AHMED ESAWY

• Note shortened
forearm (ulna=515
mm <5 percentile
Dr/AHMED ESAWY

• X-ray study few
days after birth:
Narrow chest,
shortened long
bones (no evidence
of platyspondyly).
Dr/AHMED ESAWY

pronounced humurus shortening
polyhydramnios
reduced mineralization of vertebral bodles(
Dr/AHMED ESAWY

Acrocephalopolysyndactyly
• Craniosynostosis syndromes with associated
syndactyly and/or polydactyly usually result in
increased skull height with cutaneous and/or
osseous fusion of phalanges.
Dr/AHMED ESAWY

• Axial view of the
skull: notice the
narrowing at the
level of the coronal
suture, and the poor
mineralization of the
frontal area.
Dr/AHMED ESAWY

• Frontal bossing, low
nasal bridge and
migrognathia
(sagittal view).
Dr/AHMED ESAWY

• the profile of the fetus
demonstrated frontal
bossing, hypertelorism and
micrognathia. Images of the
hands and feet were
obtained to document
(poly)syndactyly, but the
images were not convincing .
Dr/AHMED ESAWY

• No visible
polydactyly in
the hand.
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• One of the rockerbottom feet.
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Amyoplasia
• Definition: Syndrome characterized by
multiple specific congenital joint contractures,
associated with substitution of muscular
tissue by fibrosis and adipose tissue.
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• Clubfoot at 13 weeks
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Longitudinal section
through the right arm at 13
weeks showing permanent
hyperextension
Dr/AHMED ESAWY

• the right arm at 33
weeks, showing
persistence of the
hyperextension
demonstrated at 13
weeks
Dr/AHMED ESAWY

Dr/AHMED ESAWY
ultrasound features are
Lethal neonatal micromelic
• very short tubular bones, including hypoplastic femurs and,
sometimes,absent humeri
• boomerang-shaped tibia
• clefted vertebrae
• cleft lip and palate
• micrognathia
• omphalocoele
The radiological features include
• absent, short or clubbed humeri
• short, flared femurs
• short, bowed radius, ulna and tibia, hypoplastic fibula
• hypoplastic vertebra, vertebral clefting, platyspondyly
• 11 - 12 short ribs
• hypoplastic maxilla and mandible
• "hitch-hiker thumb" - characteristic feature of Type II
Atelosteogenesis

Dr/AHMED ESAWY
Early morphology of 16 week fetus with atelosteogenesis. The long bones are
very short, already 3 - 4 weeks behind normal size. The profile is micrognathic

• Profile of the fetus at
22 and a half weeks.
Note the micrognathia
Dr/AHMED ESAWY

• One of the lower
limbs of the fetus
demonstrating the
equinovarus position
of the foot.
Dr/AHMED ESAWY

ASPHYXIATING THORACIC DYSTROPHY
short narrow thorax at 22-23 weeksDr/AHMED ESAWY

Campomelic dysplasia
• Campomelia is a syndrome featuring
angulation of the long bones such as femur
and tibiae. Some authors have classified the
disease into two varieties: “long limbed” and
“short limbed,” depending on the type of
limbs involved in the pathological process.
Dr/AHMED ESAWY

shortened tibia (t) with area of
reduced echogenicity In midshaft
(arrowhead
subtle reduction In echogeniclty
of mldshaft (arrowhead),
symmetric acute
bowing of
midshaft of femur.
Short, bowed
tibias and short
fibulas show
poorly at edge of
film
Dr/AHMED ESAWY

• The curvature of the femur is visible
Dr/AHMED ESAWY

The curvature of the ulna is visible
Dr/AHMED ESAWY

A small omphalocele is also present
Dr/AHMED ESAWY

• Camptomelic dysplasia. Bowed
femur length.
Dr/AHMED ESAWY

CAMPOMELIC DYSPLASIA
The curvature of the
femur is visible, with
a significant limb
shortening and
bowing.
Dr/AHMED ESAWY

Seckel Syndrome
• severe intrauterine growth restriction,
microcephaly, orofacial dysmorphology with
characteristic "bird-headed" appearance, and
mental retardation.
Dr/AHMED ESAWY

• Facial profile at 22 weeks fetal age: receding
forehead and micrognathia
Dr/AHMED ESAWY

• At 22 weeks fetal age: Transverse view of the
posterior fossa showing absence of cerebellar
vermis
Dr/AHMED ESAWY

• At 34 weeks fetal age: transverse view of brain
showing absence of cerebellar vermis
Dr/AHMED ESAWY

• At 34 weeks fetal age: longitudinal view of the
left kidney, showing fluid-filled calyces.
Dr/AHMED ESAWY

• At 34 weeks fetal age: Facial profile showing
prominent nose, receding forehead, micrognathia
Dr/AHMED ESAWY

Ultrasonography
• Fetal movements
– Arthrogryptosis
syndromes, Pena-
Shokeir syndrome,
congenital myotonic
dystrophy, amyoplasia
Dr/AHMED ESAWY

, femurs (F = left femur)
appear normal
with short femurs
indicates a basic
rhizomelic pattern
of Involvement. (F
= left fibula)are
also markedly
short relative to
tibias, a feature
often seen with
atelosteogenesis
left humerus extremely shortened,
Atelosteogenesis. Severe micromelia with a
rhizomelic distribution
Dr/AHMED ESAWY

lack of calvariail mineralization
unremarkable humerus (arrowheads) but no
apparent ossification within bones of short
and deformed forearm (small arrows). Large
arrow Indicates hand, held close to opposite
hand (asterisk). Sonographic findings of
demineralization seen with hypophosphatasia
Hypophosphatasia. Moderate micromelia wfth
severe demineralization of bones of forearms
and calvania,
Dr/AHMED ESAWY

femur (F) is normal in contour
and mineralization
humerus (H) is also
normal in appearance
and similarly short
postaxial polydactyly,
with five fingers seen in
this section whIle thumb
was delineated in
another plane
Chondroectodermal
dyspiasia. Moderate
micromella and
polydactyly at 1 9
weeks
Dr/AHMED ESAWY

short femur (F) that appears bowed
and short tibia . Arrow indicates foot.
bowing was primanly
due to pronounced
metaphyseal flaring
Kniest dysplasia. Generalized
moderately severe micromelia
with metaphyseal flaring
simulating bowing
Dr/AHMED ESAWY

portion of ulna (u) with sharp angulatlon
of hand (arrows) back upon forearm.
hypoecholc cartIlage of knee (k), tibia (1), and
an abrupt angulation of foot (arrowheads) at
ankle, consistent with a club foot
Trisomy 18. Multiple congenital anomalies, Including a ventricular
septal defect and bilateral choroid plexus cysts, at 20 weeks
Dr/AHMED ESAWY

shortening (-8.0 SD) with an abrupt
termination of upper extremity
(arrows Indicate skin surface). S =
scapula, Sp = spine, T = thora
Severe “focal skeletal defects” at 24
weeks’ gestation
Dr/AHMED ESAWY

Cleidocranial dysostosls
upper thorax (arrow Indicates
midline posterior skin surface)
short, difficult to image clavicles
(arrowheads)
upper thorax of normal 14-week fetus (arrow
indicates postsnor skin surface). Clavicles
(arrowheads) are readily identified anteriorly
as echogenic, curvilinear structures. Clavicle Is
first bone to ossify within fetus
Dr/AHMED ESAWY

Definition
• Arthrogryposis Multiplex Congenita (AMC) is
defined as congenital, non-progressive
contractures in more than two joints and in
multiple body areas.
• The term arthrogryposis derives from the Greek
words arthron – joint and grypos – curved The
term multiple congenital contractures can be
used synonymously with arthrogryposis.
• The diagnosis is purely descriptive, and
arthrogryposis can be part of a large number of
different syndromes, at least 200
Dr/AHMED ESAWY

Etiology
• Often unknown
• Fetal Akinesia (decreased fetal movements)
• fetal abnormalities (neurogenic, muscle, or
connective tissue abnormalities,mechanical
limitations to movement e.g.Oligohydramnios )
• maternal disorders (infection, drugs, trauma,
other maternal illnesses)
Dr/AHMED ESAWY

Causes of arthrogryposis
Dr/AHMED ESAWY

Fetal Arthrogryposis Secondary to
a Giant Maternal Uterine Leiomyoma
• Abdominal ultrasound
image showing the
myoma in the front
face of the uterus that
clearly evidences the
fetal compression.
• Both fetal legs and
arms are in a
hyperflexion position.
Dr/AHMED ESAWY

Drawing of an infant with arthrogryposis
Dr/AHMED ESAWY

Arthrogryposis . joint contractures
Dr/AHMED ESAWY
• absent or severely reduced fetal movements during scanning
• failure of fetus to change position during scanning
• fixed flexion/extension of limbs
• clasped thumbs
• cystic hygroma
The radiological features include
• slender, osteoporotic bones
• fixed flexion deformities, joint dislocations
Page 9 of 40
• vertical talus with rocker-bottom feet
• brachycephaly

Dr/AHMED ESAWY
scan of a 21 week fetus with
arthrogryposis. The fetus is hydropic
with a cystic hygroma and pleural effusions

Dr/AHMED ESAWY
scan of a 21 week fetus with
arthrogryposis. The bone length is
normal, but the knees are fixed in
extension, and wrists and hands are
tightly flexed. Fetal movements were
minimal during the scan.

Clubfoot (arrow).
Dr/AHMED ESAWY

Straight knee joints (arrow).
Dr/AHMED ESAWY

Hip joints bending upward stiffly (arrow) and straight
knee joints (arrowhead) under maximal translucent mode.
Dr/AHMED ESAWY

Elbows bending up stiffly (arrow) and straightened
knees (arrowhead). Note the same position of the fetus
Dr/AHMED ESAWY

FETAL AKINESIA DEFORMATION
SEQUENCE (FADS)
• heterogeneous group of conditions resulting
in multiple joint contractures, including
bilateral talipes and fixed flexion or extension
deformities of the hips, knees, elbows and
wrists. This sequence includes congenital
lethal arthrogryposis, multiple pterygium and
Pena–Shokeir syndromes
Dr/AHMED ESAWY

Hypophosphatasia
Dr/AHMED ESAWY
ultrasound features are
• "too-well-seen" anatomy - due to lack of bone mineralization
• shortened, deformed limbs
• polyhydramnios
The radiological manifestations include
• very poor mineralization of bones - "jelly-baby"
• almost no calvarial ossification (cranium membranosum)
• marked retardation of skeletal ossification
• very small chest, with small ribs
• abnormally shaped vertebral bodies - clefting, platyspondyly

Dr/AHMED ESAWY
scan of a 19 week fetus with hypophosphatasia. The fetal biometry
is within the normal range, the only indication of a problem in this case was the
"twisted“ appearance to the fibula. Polyhydramnios was mild and developed later in
the pregnancy

Short-Rib Polydactyly Syndrome
Dr/AHMED ESAWY
The ultrasound features are :
• short ribs and long bones
• polydactyly
• narrow chest
• cystic hygroma
• choroid plexus cysts
• brain and renal abnormalities in type II and IV
(vermian hypoplasia,arhinencephaly, cystic kidneys)
• hydrops

Dr/AHMED ESAWY
scan of a 20 week fetus with short rib polydactyly
syndrome type III.
The long bones are straight but very short

Dr/AHMED ESAWY
scan of a 20 week fetus with short rib polydactyly syndrome type III. The ribs are very
short, ending only halfway around the chest. There are more than
5 toes on the feet.

Mimics of Skeletal Dysplasias.
Severe Intrauterine Growth
Restriction (IUGR).
Dr/AHMED ESAWY
The ultrasound features are:
• abnormal fetal biometry - small abdomen with poor growth, shortened long bones, head
measurement may be normal or small
• oligohydramnios
• abnormal umbilical artery dopplers - elevated SD ratios, absent or reversed end
diastolic flow
• abnormal middle cerebral artery dopplers - increased diastolic flow and
abnormal resistive indices
• abnormal placenta in many cases - small or calcified placenta, marginal or
velomentous cord insertion
• echogenic bowel in up to 20%

Dr/AHMED ESAWY
scan in a 29 week fetus being followed for
severe IUGR. There has been
almost no growth in the 5 week interval
since the previous scan. The femur looks
curved and there is very little liquor

Dr/AHMED ESAWY
scan in a 29 week fetus being followed for severe IUGR. The flow in the
umbilical arteries is now reversed in diastole. There is also reversal of flow in the ductus
venosus, which is a "pre-terminal" sign

Chronic Intervillous Histiocytosis.
Dr/AHMED ESAWY
chronic intervillositis is a rare inflammatory disorder of the
placenta resulting in extreme IUGR and recurrent pregnancy
losses
The skeletal findings can be striking, mimicking a severe
skeletal dysplasia

Dr/AHMED ESAWY
scan in a 30 week fetus. The placenta is sonographically normal, but the
umbilical artery dopplers have an elevated SD ratio. At this stage, the advanced
Doppler were still normal.

11-Fetal skeletal system part 1 Dr Ahmed Esawy

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11-Fetal skeletal system part 1 Dr Ahmed Esawy