‫بسم هللا الرحمن الرحيم‬

Dr. Ahmed Esawy

MBBS M.Sc
MD

Dr/AHMED ESAWY
1 STLECTURE 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
Dr/AHMED ESAWY
Clavicle ,Scapular, Humerus

Radius, Ulna

Proximal end Ulna

longer than Radius

Dr/AHMED ESAWY
Dr/AHMED ESAWY
•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
Dr/AHMED ESAWY
Dr/AHMED ESAWY
 Skeletal Dysplasia

Types:

• Thanatophoric Dwarfism

• Achondroplastic Dysplasia
 limb deficiency
• Osteogenesis Imperfecta
chondrodysplasia punctata,
• Trisomy 18
diastrophic dysplasia
• Meckel- Gruber Syndrome

• Down Syndrome

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
Diagram illustrates a diagnostic algorithm for use in
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 --------------------- 1.47
Dr/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
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
 Ribs / Spine / Pelvis

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

Dr/AHMED ESAWY
Appropriate plane for spine sonography

Parallel of
– Longitudinal saggital plane posterior
– Longitudinal coronal plane element
– Cross-sectional plane

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
 Coronal view

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.

Dr/AHMED ESAWY
• Hemivertebra and block vertebra.

Dr/AHMED ESAWY
• Hemivertebra and
block vertebra.

Dr/AHMED ESAWY
Short ribs in OI fetus
Chest hypoplasia

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

Dr/AHMED ESAWY
Diagram illustrates a diagnostic algorithm for use in
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),
 hypertelorism

• The inter-ocular distance (IOD) is a measurement between the

two medial canthi of each eye
Dr/AHMED ESAWY
Dr/AHMED ESAWY
micropathia

Dr/AHMED ESAWY
• Clover leaf skull in 3rd trimester

Dr/AHMED ESAWY
LECTURE OF FETAL
SKELETAL SYSTEM .
DYSPLASIA

Dr/AHMED ESAWY
 Standardized ultrasound approach
to the skeletal dysplasias
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

Dr/AHMED ESAWY
 Standardized ultrasound approach
to the skeletal dysplas
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

Dr/AHMED ESAWY
 indicators of a poor prognosis in
skeletal dysplasias
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

5. Low Femur Length-to-Abdominal Circumference Ratio

6. Fetal Hydrops severe of the skeletal dysplasias, as well as aneuploidies

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

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

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

Dr/AHMED ESAWY
Hypoplastic thorax in a fetus Cloverleaf skull in a fetus with
with thanatophoric dysplasia. thanatophoric dysplasia.
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).

Dr/AHMED ESAWY
oversized head
with a
cloverleaf
shape)

temporal bulge trident” hand

hypoplastic thorax temporal bulge

short

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

Dr/AHMED ESAWY
• Platyspondyly.

Dr/AHMED ESAWY
• Discrepancy
between the
small chest and
the larger
abdomen

Dr/AHMED ESAWY
• Absence of cloverleaf shape

Dr/AHMED ESAWY
Dr/AHMED ESAWY
the femurs are curved (telephone receiver)

Dr/AHMED ESAWY
severe shortening of femur (F) and tibia small thorax

generalized severe
micromella and constricted
thorax
Dr/AHMED ESAWY
 Osteogenesis Imperfecta

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 . •
 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.
scan of a 20 week fetus with osteogenesis imperfecta type II.
the femoral The decreased skull
irregularity and ossification,
angulation which allows easy
(arrow in a), a visualization
finding that is of the intracranial
consistent with structures
fractures

Postmortem
radiograph shows
wavy ribs (black
arrow) and irregular
deformed long bones
(white arrows) due to
multiple fractures.

Irregular shape of the ribs

(arrow in c), a finding
that also suggests
Dr/AHMED ESAWY
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.
Dr/AHMED ESAWY
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
Marked demineralizatlon
midshaft fractur
of skull

poorly mineralized calvanium relative greater hortening

of lower extremities

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

Markedly short, thickened, and

poorly mineralized humeru

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
 Chondrodysplasia Punctata

Findings can include

craniofacial dysmorphism, •
ocular abnormalities, •
cutaneous abnormalities, •
asymmetric shortening of the limbs, •
and joint contractures •

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

stippled epiphyses in the long

bones

small head with a flat fac

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 .•

 sloping
forehead

hitchhiker’s bilateral
thumb clubfeet

marked micrognathia

the metaphyseal widening

of long bones (double
arrows) and irregularity
of the metacarpal and
metatarsal bones (single
arrow).
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
The ultrasound features are
• • 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
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

Dr/AHMED ESAWY
ACHONDRO
GENESIS
TYPE II

Dr/AHMED ESAWY
Dr/AHMED ESAWY
Achondroplastic Dysplasia

• Autosomal Dominant
• If Homozygous:
• US dx:
– Rhizomelia
– “Trident”
– Nml ossification

Dr/AHMED ESAWY
Achondroplasia

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

Dr/AHMED ESAWY
Dr/AHMED ESAWY
 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).

Dr/AHMED ESAWY
• 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
 polyhydramnios

reduced mineralization of vertebral bodles(

pronounced humurus shortening

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.

Dr/AHMED ESAWY
• One of the rockerbottom feet.

Dr/AHMED ESAWY
 Amyoplasia

• Definition: Syndrome characterized by

multiple specific congenital joint contractures,
associated with substitution of muscular
tissue by fibrosis and adipose tissue.

Dr/AHMED ESAWY
• Clubfoot at 13 weeks

Dr/AHMED ESAWY
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
 Atelosteogenesis
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
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

Dr/AHMED ESAWY
• 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 weeks

Dr/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
 symmetric acute
bowing of
midshaft of femur.
Short, bowed
tibias and short
fibulas show
poorly at edge of
film

shortened tibia (t) with area of subtle reduction In echogeniclty

reduced echogenicity In midshaft of mldshaft (arrowhead),
(arrowhead

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
 Atelosteogenesis. Severe micromelia with a
rhizomelic distribution

with short femurs

, femurs (F = left femur) indicates a basic
appear normal rhizomelic pattern
of Involvement. (F
= left fibula)are
also markedly
short relative to
tibias, a feature
often seen with
atelosteogenesis
left humerus extremely shortened,
Dr/AHMED ESAWY
 Hypophosphatasia. Moderate micromelia wfth
severe demineralization of bones of forearms
and calvania,

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
Dr/AHMED ESAWY
demineralization seen with hypophosphatasia
 Chondroectodermal
dyspiasia. Moderate
micromella and
polydactyly at 1 9
weeks

humerus (H) is also

femur (F) is normal in contour
normal in appearance
and mineralization
and similarly short

postaxial polydactyly,
with five fingers seen in
this section whIle thumb
was delineated in
another plane
Dr/AHMED ESAWY
 Kniest dysplasia. Generalized
moderately severe micromelia
with metaphyseal flaring
simulating bowing

short femur (F) that appears bowed

and short tibia . Arrow indicates foot.

bowing was primanly

due to pronounced
metaphyseal flaring
Dr/AHMED ESAWY
 Trisomy 18. Multiple congenital anomalies, Including a ventricular
septal defect and bilateral choroid plexus cysts, at 20 weeks

portion of ulna (u) with sharp angulatlon hypoecholc cartIlage of knee (k), tibia (1), and
of hand (arrows) back upon forearm. an abrupt angulation of foot (arrowheads) at
ankle, consistent with a club foot
Dr/AHMED ESAWY
 Severe “focal skeletal defects” at 24
weeks’ gestation

shortening (-8.0 SD) with an abrupt

termination of upper extremity
(arrows Indicate skin surface). S =
scapula, Sp = spine, T = thora

Dr/AHMED ESAWY
 Cleidocranial dysostosls

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

upper thorax (arrow Indicates

midline posterior skin surface)
short, difficult to image clavicles
(arrowheads)

Dr/AHMED ESAWY
ARTHROGRYPOSIS

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
classification

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
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
The ultrasound features are
• 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.

Dr/AHMED ESAWY
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
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

Dr/AHMED ESAWY
 Short-Rib Polydactyly Syndrome
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.

Dr/AHMED ESAWY
 Mimics of Skeletal Dysplasias.
Severe Intrauterine Growth
Restriction (IUGR).
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

Dr/AHMED ESAWY
 Chronic Intervillous Histiocytosis.

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.

Dr/AHMED ESAWY