11-Fetal skeletal system part 2 Dr Ahmed Esawy

‫الرحيم‬ ‫الرحمن‬ ‫هللا‬ ‫بسم‬

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

FETAL SKELETAL
SYSTEM
Dr/AHMED ESAWY

FETAL SKELETAL SYSTEM
Focal anomalies upper limb
Dr/AHMED ESAWY

Limb formation occurs at 4-8 weeks’gestation,
while primary ossification centers develop in all
the long bones of the limbs by the 12th week of
gestation.
Dr/AHMED ESAWY

The etiology of limb abnormalities is very complex,
single gene disorders ,
chromosomal abnormalities ,
intrauterine factors ,
vascular events,
maternal diseases ,maternal exposures,
unknown
Dr/AHMED ESAWY

• Malformation: A morphologic defect of an organ, part of
an organ, or larger region of the body resulting from an
intrinsically abnormal developmental process
(eg,phocomelia, polydactyly).
• • Deformation: An abnormal shape or position of part of
the body caused by mechanical forces (eg, clubfeet).
• • Disruption: A morphologic defect of an organ, part of an
organ, or a segment of the body caused by an extrinsic
factor interfering with an originally normal developmental
process (eg, amniotic band sequence).
Dr/AHMED ESAWY

Focal anomalies
Dr/AHMED ESAWY

Shortened fetal humerus
• A shortened fetal humerus is a morphological
descriptor and is usually defined when the
humeral length falls below the 5th percentile
or less than 0.9 predicted by the bi-pareital
diameter. It can occur in isolation, or in
association with a number of other anomalies.
• The humeral length is not a usual fetal
biometric parameter.
Dr/AHMED ESAWY

Shortened fetal humerus associations
• Aneuopliody syndromic
• Down syndrome:
• Non-aneuopliody syndromic
• Fetal skeletal dysplasia
• non syndromic
• IUGR
Dr/AHMED ESAWY

the Fetal Hands
Dr/AHMED ESAWY

Clinodactyly
Dr/AHMED ESAWY
meaningklinenAncient Greek(from theClinodactyly
"to bend" and daktylos meaning "digit") is a medical
(a finger or toe)digitaterm describing the curvature of
in the plane of the palm, most commonly the fifth finger
") towards the adjacent fourth fingerlittle finger(the "
").ring finger(the "
It is a fairly common isolated anomaly which often goes
unnoticed, but also occurs in combination with other
syndromesgeneticabnormalities in many

• Clinodactyly. US image shows clinodactyly of
the fifth finger in a normal fetus (arrow) at 18
weeks of gestation.
Dr/AHMED ESAWY

• Clinodactyly.
• Second trimester ultrasound reveals shortening and
radial deviation of the middle phalanx of the fifth
finger (arrow), a condition frequently associated with
karyotype abnormality such as trisomy 21,18 and 13.
Dr/AHMED ESAWY

Ultrasound Clinodactyly, right hand Hypoplastic middle
phalanx in the right 5th finger indicated by the arrow.

Syndactyly
Syndactyly (from Greek συν- meaning "together" and δακτυλος meaning "finger") is a
condition wherein two or more digits are fused together. It occurs normally in
some mammals, such as the siamang and kangaroo, but is an unusual condition in
human
syndactyly can be simple or complex.
• In simple syndactyly, adjacent fingers or toes are joined by soft tissue.
• In complex syndactyly, the bones of adjacent digits are fused. The kangaroo exhibits
complex syndactyly.
• Partial simple syndactyly of the 2nd and 3rd toe
Syndactyly can be complete or incomplete.
• In complete syndactyly, the skin is joined all the way to the tip of the finger
• In incomplete syndactyly, the skin is only joined part of the distance to the
fingertip.
Dr/AHMED ESAWY

• Soft-tissue syndactyly. US image of a fetus at 18 weeks of gestation
shows softtissue syndactyly of the fourth and fifth fingers, which
remained linked throughout the US examination,while the other
fingers moved independently.Dr/AHMED ESAWY

• Complex syndactyly.
• (a) US image of a fetus at 34 weeks of
gestation shows the last four digits stuck
together, with a mittenlike appearance of
the hand.
• (b) US image shows that the thumb (arrow)
is independent; the fetus is able to grip.
• (c) Corresponding radiograph of the hand
at 4 months of age Dr/AHMED ESAWY

Syndactyly “mitten hand”
Apert syndrome: acrocephalosyndactyly

• Syndactyly.
• A, B. At prenatal sonography, two digits (arrows) at
the ulnar side of a fetal hand are seen to be stuck
together. The distal phalanges of these digits are
observed as one bony segment (arrowhead).
Dr/AHMED ESAWY

• Pre- or postaxial polydactyly
• Syndactyly
• Clinodactyly
Dr/AHMED ESAWY

Alignment Abnormalities
• Fixed positions of the wrists or the digits are
abnormal. When an alignment abnormality is
fixed, the prognosis is often guarded, not only
because of the functional effects but also
because of the frequent association of such
fixed positions with karyotype anomalies and
syndromes (Table 1).
Dr/AHMED ESAWY

Clenched Hand
• In this anomaly, the index finger overlaps a
clenched fist formed by the other digits. The
proximal interphalangeal articulation of the index
finger is flexed and ulnarly deviated and the
thumb is adducted. This position is constant
during the examination and is strongly suggestive
of trisomy 18 . It must be differentiated from a
fixed position observed in akinesia-hypokinesia
syndromes and from a temporarily closed but
normal fist.
Dr/AHMED ESAWY

• Schematic representation of a clenched hand. (4a) US image shows a typical
clenched hand of a fetus with trisomy 18 at 18 weeks of gestation. (4b) US image
shows ulnar deviation of the index finger, which overlaps the other digits.
Dr/AHMED ESAWY

• Clenched hand deformity.
• At fetal ultrasound, overlapping of the fourth and
fifth fingers radially, and the second finger in an
ulnar direction, are observed consistently in a
fetus with trisomy 18.
Dr/AHMED ESAWY

A fetal akinesia sequence (FAS)
is an event that can occur with a lack of fetal
movement (fetal akinesia). This results in
• fetal joint contractures: arthrogryposis
• pulmonary hypoplasia
• polyhydramnios
• craniofacial anomalies
– Micrognathia
Epidemiology
• The esimated prevalence is at ~ 1 in 3000 births.Dr/AHMED ESAWY

• n utero fetal movement in considered essential for normal fetal growth. In
FAS intra uterine immobility is thought to be triggered by a number of
factors which include
• central or peripheral neuropathic process(es)
– congenital or secondary to in utero infective insult
• congenital myopathies
– glycogen storage diseases (particularly types IV and VII)
– fetal aceytylcholine receptor subunit mutations
– Nemaline myopathy 4
• intra uterine exposure to immobilising substances
• connective tissue or cutaneous conditions (restrictive dermatopathy)
limiting fetal movement
• external movement limiting factors
– twin pregnancy
– oligohydramnios / anhydramnios
– uterine anomalies
– large uterine fibroid
Dr/AHMED ESAWY

Focal akinesia. (a) Schematic representation of
the anomalies observed at US in a fetus at 30
weeks of gestation. (b) US image shows
camptodactyly, with permanent flexion of the
proximal phalanges of the third and fourth
fingers (arrows) and with flexion deformities of
the distal interphalangeal articulations of the
second and fifth fingers, which are extended.
(c) US image, which shows the palmar aspect
of the same hand, helps confirm the proximal
flexion of the third and fourth fingers (arrows).
Dr/AHMED ESAWY

FETAL AKINESIA DEFORMATION
SEQUENCE (FADS)
multiple joint contractures, including bilateral talipes and fixed flexion or extension deformities
of the hips, knees, elbows and wrists
Dr/AHMED ESAWY

• Diffuse akinesia. (a) US image
in a fetus at 23 weeks of
gestation shows the left wrist
flexed, the hand closed, and
the elbow extended, a position
that remained unchanged
during two successive
examinations.
• (b) Corresponding radiograph
of the left upper limb of the
same fetus shows a clubhand
and a normal radius and ulna.
The other three limbs (not
shown) also manifested fixed
deformities.
Dr/AHMED ESAWY

Camptodactyly
• Camptodactyly is a flexion contracture of the
proximal interphalangeal joint of the finger .
Severe camptodactyly of multiple digits is
usually associated with a karyotype anomaly
(trisomy 18, 13, or 15) or a contracture
syndrome. The deformation is often
asymmetric, may be isolated, and may
progress during infancy or childhood
Dr/AHMED ESAWY

CLUB HANDS
• Clubhand deformities are classified into two main
categories: radial and ulnar.
• Radial clubhand includes a wide spectrum of disorders
that encompass absent thumb, thumb hypoplasia, thin
first metacarpal and absent radius.
• Ulnar clubhand, which is less common, ranges from
mild deviations of the hand on the ulnar side of the
forearm to complete absence of the ulna. While radial
clubhand is frequently syndromatic, ulnar clubhand is
usually an isolated anomaly.
Dr/AHMED ESAWY

Clubbing of the hand is suggestive of the spectrum of
“radial ray” anomalies, which include an
abnormal thumb (Holt-Oram syndrome),
hypoplasia and absence of the thumb,
absence of the radius or of both the radius
and the hand

Fetal club hand deformity
Dr/AHMED ESAWY

• Radial clubhand. (a) US image shows severe constant
malposition of the hand, secondary to the absence of one
forearm bone. (b) Corresponding radiograph helps confirm
the radial clubhand deformation secondary to radial aplasia.
Dr/AHMED ESAWY

• Ulnar clubhand.
• (a) US image shows fixed deformation of the elbow (arrow) with hand
malposition.
• (b) Corresponding radiograph shows a fixed deformation, with the hand clenched
and slightly deviated in the ulnar direction because of ulnar aplasia. The
deformation of the elbow is secondary to radiohumeral synostosis.Dr/AHMED ESAWY

• Phocomelia. (a) Coronal oblique US image of a fetal thorax
at 20 weeks of gestation shows abnormal direct
implantation of the hand (arrow) on the thorax. (b)
Corresponding radiograph shows the bilateral anomaly.
Dr/AHMED ESAWY

• Thumb aplasia. (a) US image of a fetus at 19 weeks of gestation
shows only four fingers that are well formed. (b) Corresponding
radiograph shows the bilateral thumb anomaly.
Dr/AHMED ESAWY

• Hitchhiker thumb deformation in diastrophic dysplasia. (a) US
image of a fetus of unknown gestational age shows abnormal
abduction of the thumb (arrow) and foreshortening of the long
bones (the ulna is visible between the calipers). (b) Corresponding
radiograph of the same fetus shows the characteristic malposition
of the thumbs. Dr/AHMED ESAWY

• Broad thumb in Pfeiffer syndrome. (a) US image at 20
weeks of gestation shows a thickened thumb. This finding,
associated with a cranial deformation, allowed a precise
prenatal diagnosis of the type of acrocephalosyndactyly.
• (b) Corresponding radiograph helps confirm the hand
abnormality. Dr/AHMED ESAWY

Macrodactyly in Proteus syndrome. (a) US image at 23 weeks of gestation shows a
disproportionately long third left finger (arrow). Massive axillary lymphangioma also was
observed at US. (b) Corresponding radiograph shows tumefaction of the axillary soft tissues, in
association with subtle macrodactyly of the third and fourth fingers
Dr/AHMED ESAWY

• Thanatophoric dysplasia and trident hand. (a) US
image at 20 weeks of gestation shows four fingers
with the same length (arrows). (b) Corresponding
radiograph helps confirm the hand abnormality.Dr/AHMED ESAWY

• Chondrodysplasia punctata. (a) US image of a fetus at
24 weeks of gestation shows abnormal
hyperechogenicity of the carpus (arrows). (b)
Radiograph of the hand of the 1-day-old neonate
shows multiple punctate carpal calcifications.Dr/AHMED ESAWY

Polydactyly
• Polydactyly refers to the situation where there
are more than the usual number of digits (five)
in a hand or foot. It can be broadly classified as:
• pre-axial polydactyly: extra digit(s) towards
1st digit (i.e. medially)
• post-axial polydactyly: extra digit(s) towards
5th digit (i.e. laterally)
• central polydactyly : middle three digits are
involved
Dr/AHMED ESAWY

• A large proportion of polydactyly is isolated
although they can be associated with an
immense amount of anomalies
Dr/AHMED ESAWY

• Postaxial polydactyly in trisomy 13. (a) US image of a fetus
of unknown gestational age shows a small incomplete
supernumerary digit (arrow) along the fifth finger. (b)
Corresponding radiograph shows bilateral postaxial
polydactyly. Dr/AHMED ESAWY

• Short ribs–polydactyly syndrome. (a) US image
shows lack of ossification of the hand, with six
barely visible digits (arrows). (b) Corresponding
radiograph, which shows the unossified digits,
helps confirm the diagnosisDr/AHMED ESAWY

Dr/AHMED ESAWY
Polydactyly with an osseus
component in the extra digit.
the extra digit is a small
"stump" of soft tissue (arrow)

• Polydactyly of the central type. US image of a
fetus at 20 weeks of gestation shows six
clearly identifiable fingers.Dr/AHMED ESAWY

Ectrodactyly
• The split hand and foot malformation (SHFM)
is characterized by:
• Syndactyly.
• Median cleft of the hands or feet:
– V-shaped cleft (autosomal dominant pattern)
– U-shaped cleft (atypical, sporadic form).
• Aplasia and / or hypoplasia of the phalanges,
metacarpals and metatarsals.
Dr/AHMED ESAWY

• Ectrodactyly (split hands or feet).
• A. The hand of this fetus has only four
fingers, with abnormal widening between the
second and third finger (arrows).
Dr/AHMED ESAWY

• Isolated claw hand – 2nd + 3rd digits missing
Dr/AHMED ESAWY

Isolated claw hand – 2nd + 3rd digits missing. Soft
tissue and osseous syndactyly 4th +5th fingers
Dr/AHMED ESAWY

Lobster claw with absence of central rays
dividing the hand into two parts
Dr/AHMED ESAWY

• Ectrodactyly in split-hand and -foot syndrome.
US image at 20 weeks of gestation shows a
deep central V-shaped cleft in the hand.
Dr/AHMED ESAWY

• Oligodactyly. (a) US image at 21 weeks of
gestation shows only three fingers (arrows). (b)
Corresponding radiograph after birth shows the
absence of the fourth and fifth fingers.
Dr/AHMED ESAWY

Ectrodactyly. (a) US image of a
fetus at 19 weeks of gestation
shows a wide gap between the
thumb (arrow) and the last two
fingers of the left hand, which
are malformed.
US image of the same fetus
shows the right hand, which also
is affected by wide ectrodactyly
(the arrow indicates the thumb)
in association with syndactyly of
the last two digits. The fetus also
manifested cleft lip, cleft palate,
and micrognathia.
(c) Corresponding fetal
radiograph shows
ectrodactyly of the four
extremities.
Dr/AHMED ESAWY

• Congenital constriction band
sequence. (a) US image of a
fetus at 18 weeks of gestation
shows constrictive rings
(arrows) of the right forearm,
with distal soft-tissue edema.
• (b) Corresponding fetal
radiograph helps confirm the
presence of a constrictive ring
of the right forearm and shows
distal amputation and
syndactyly on the left side.
Dr/AHMED ESAWY

Congenital constriction band sequence.
(a) US image of a fetus at 19 weeks
of gestation shows distal
amputation at the level of the left
wrist. (b) Corresponding fetal radiograph confirms
amputation.
Dr/AHMED ESAWY

Isolated limb deficiency. (b) US images show a shortened forearm with an
abnormal hand (arrow) (note the lack of a normal hand and the abnormal
soft tissue at the distal end of the forearm), normal limb bone
echogenicity, and otherwise normal anatomy.. (c) Radiograph shows
abnormal bone tissue (arrow) at the end of the normally formed and
mineralized forearm bone.

Predicting Height from the Length of
Limb Bones
• Height in inches = (1.945 x femur length ) +
28.679
Dr/AHMED ESAWY

FETAL SKELETAL SYSTEM .
Focal anomalies lower limb
Dr/AHMED ESAWY

The scan showing the correct FL
measurement
Dr/AHMED ESAWY

Appropriate measurement, avoiding
side lobe artifacts
Dr/AHMED ESAWY

• The femur was considered to be shortened
when the measured/expected ratio was 0.88
or less
• FL(expected)= -9,3105+(0,9028 x BPD)
Dr/AHMED ESAWY

Reasons for a slightly shorter femur
• 1. Normal variant
• 2. Early onset of IUGR
• 3. Marker of aneuploidy
• 4. Marker of skeletal dysplasias
• 5. Marker of facial and brain
• syndromes(Neu-Laxova; Shprintzen;
• Femoral Hypoplasia-Unusual Facies)
• 6. Sign of DiGeorge syndrome
Dr/AHMED ESAWY

The list of skeletal dysplasias and syndromes that might
present prenatally with isolated short FL
• Alkyldihydroxacetonephosphate synthase deficiency
• Atelosteogenesis type III
• Barrow (1984)- short-limbed dwarfism; congenital heart defect
• Baxova (1993)- micromelic bone dysplasia-humerus, femur, tibia type
• Brachydactyl-type A1
• Chondrodysplasia punctata-tibia metacarpal type
• De la Chapelle-neonatal osseous dysplasia
• Dysspondylochondromatosis
• Gracile bone dysplasia
• Hypochondroplasia
• Hypochondroplasia (autosomal recessive)
• Kyphomelic dysplasia
• Metaphyseal acroscyphodysplasia
• Metaphyseal chondrodysplasia- cone-shaped epiphyses
• Omodysplasia
• Omodysplasia type II
• Patterson (1975)-rhizomelic dysplasia
• Proximal femoral focal deficiency
• Pseudoacondroplasia-like syndrome
• Slaney (1999)- spondyloepimetaphyseal dysplasia-hypogammaglobulinaemia
• Spondyloepimetaphyseal dysplasia-type Genevieve
• Spondylometaphyseal dysplasia-type Borochowitz
• Spondylometaphyseal dysplasia-type Sutcliffe
• Silver-Russell syndrome Dr/AHMED ESAWY

Feumr growth patteren
Dr/AHMED ESAWY

Key points
• 1. Most of the fetuses with isolated short FL are normal or constitutionally short.
• 2. Detailed sonographic evaluation regarding additional markers for aneuploidy,
measurement of other tubular bones, Doppler analysis should be performed.
• 3. If there are additional markers, karyotype analysis should be performed. The DNA may be
banked for future analysis.
• 4. If the fetal karyotype analysis is normal, serial follow-up scans should be scheduled.
• 5. If, during follow-up the FL falls more from the mean, skeletal dysplasias or severe IUGR
should be suspected. Molecular analysis must be performed for the diagnosis of skeletal
dysplasias with known molecular teiology, such as achondroplasia and hypochondroplasia .
Preeclampsia must be ruled out.
• 6. Findings more suggestive for skeletal dysplasias include FL 2 SD below the mean for
gestational age; FL/ foot length <1; and FL/ abdominal circumference < 0.16 .
• 7. Despite detailed sonographic evaluation, some of the syndromes cannot be ruled out and
postnatal clinical genetic evaluation of fetuses or newborns should be considered
Dr/AHMED ESAWY

Foot anomalies
•pre- or postaxial polydactyly (the presence of more than
five digits; preaxial if the extra digits are located on the
radial or tibial side and postaxial if they are located on the
ulnar or fibular side);
•syndactyly (soft-tissue or bone fusion of adjacent digits);
•clinodactyly (deviation of a finger)
•other deformities.

• Clubfoot and polydactyly at 14 weeks gestation.
Transabdominal US image shows varus deformity of the
foot (arrow) and six toes.
Dr/AHMED ESAWY

•Foot length should be measured and any missing bones
•Any postural deformities such as
•“hitchhiker’s thumb,”
•“rocker-bottom” feet, a
•clubbed feet or hands.

The Hitchhiker's Thumb consists of :
Oval and hypoplastic first metacarpal.
Abducted proximally positioned thumb.
Low set first digit.
Etiology:
Skeletal dysplasia -
Diastrophic dysplasia.
Campomelic dysplasia.
Isolated and familial (15%).
Trisomy 18 (30%) and trisomy 13.
Fetal akinesia and arthrogryposis.
Prolonged oligohydramnios.
Limb-body wall complex (32%).
Spina-bifida.

Hitchhiker thumb
Second-Trimester Sonographic Diagnosis of
Diastrophic Dysplasia.

• Radial ray abnormality.
• Second-trimester
ultrasound reveals that
the forearm consists of
only the ulna (arrow),
with sharp radial
deviation of the hand.
The thumb is not well
visualized, consistent
with radial ray
abnormality.
Dr/AHMED ESAWY

• Focal skeletal dysplasia: mesomelia.
• Fetal sonography performed at week 20 demonstrates the
typical finding of mesomelic dysplasia. The forearm (radius
and ulnar, arrows) is markedly shortened compared with
the humerus
Dr/AHMED ESAWY

Polydactyly
• Polydactyly is a condition in which a person
has more than five fingers per hand or five
toes per foot.
Dr/AHMED ESAWY

• Polydactyly.
• A. Prenatal ultrasound reveals that the foot, viewed
radially, has an extra digit (preaxial polydactyly) (arrow).
• B. An extra digit at the ulnar side of hand, viewed axially,
suggests postaxial polydactyly (arrow).
Dr/AHMED ESAWY

• Clubfoot.
• At 22 second weeks’ gestation, the forefoot
(arrows) is oriented in the same plane as the
lower leg.
Dr/AHMED ESAWY

• Sandal gap deformity.
• Plantar view of the foot in a fetus with Down syndrome
reveals an abnormal degree of separation between the
great toe and the second toe (arrow).
Dr/AHMED ESAWY

• Abnormal carrying angle of the foot in talipes. Compare this
appearance to the normal appearance shown in Fig. 8.32A.
Dr/AHMED ESAWY

.. B. Plantar view of a foot with a sandal
gap. Note the appearance of the big toe
and second toe
Plantar view of the normal foot. Note the
appearance of the toes, especially the big toe
(arrow) and second toe
Dr/AHMED ESAWY

• Curly toe.
• A, B. Prenatal sonography indicates that the
fourth toe (arrow) deviates medially and
plantarly (A, axial scan; B, coronal scan).
Dr/AHMED ESAWY

• Amniotic band syndrome.
• A. In this fetus with ABS, focal constriction (arrows) at
the ankle has induced swelling of the foot.
• B. Amniotic bands are seen in the vicinity of the fetal
hand (arrow), explaining the presence of focal
lymphedema in the distal hand.
Dr/AHMED ESAWY

• Amniotic band syndrome.
• . In fetus with ABS, the left arm is amputated at
the mid portion of the humerus (arrows).
• Radiograph of the autopsy specimen in related
to figure C confirms amputation below mid-
humerus level (arrow).
Dr/AHMED ESAWY

• Sole of foot
showing abduction
of first toe. This
normal fetus"
father could pick
up tennis balls
with his toes.
Dr/AHMED ESAWY

• Echogenic focus in heel,
sagittal view.
• An echogenic focus in the
heel is a normal finding after
17-18 weeks . Before this, it
is a soft marker for
chondrodysplasia punctata
and related conditions6, and
for aneuploidy (premature
ossification in trisomy 21).
Dr/AHMED ESAWY

• Lateral X-ray of triploid fetus, with punctate
calcification in the heel
Dr/AHMED ESAWY

• Rockerbottom foot, sagittal view. Note prominent
heel. Triploidy.
• The rockerbottom foot, with a prominent heel
and convex sole occurs in trisomy 18, 18q-1, and
triploidy. Dr/AHMED ESAWY

rocker-bottom foot
It is characterized by a prominent calcaneus (heel) and a
convex rounded sole. The presence of a rocker bottom foot in
an antenatal ultrasound scan is sometimes classified as a soft
sign for aneuploidic anomalies 3

• Rockerbottom foot.
• Prenatal ultrasound demonstrates eversion of
the plantar arch (arrows).
Dr/AHMED ESAWY

• Lateral X-ray, rockerbottom foot.
Dr/AHMED ESAWY

Bilateral talipes equinovarus
(29 weeks, fetal dyskinesia
sequence). Note varus
angulation of forefoot
Talipes equinus, 32 weeks.
Dr/AHMED ESAWY

• Normal dorsiflexion, 36 weeks
Dr/AHMED ESAWY

Polydactyly
• Polydactyly cannot always be excluded by
ultrasound scans, since the extra digit, in some
cases is no more than a skin tag. Counting toes
is not routine and rarely productive
Dr/AHMED ESAWY

• Polydactyly (familial, with polyhydramnios, 32
weeks). Arrowhead: extra digit
Dr/AHMED ESAWY

Amputations
• The early amnion rupture sequence can cause
edema of an extremity distal to a constriction
band (bilateral pedal edema is more likely to
be syndromal or due to aneuploidy). It can
also cause amputation of digits or extremities
or terminal syndactyly. Syndactyly of the toes
is difficult to diagnose
Dr/AHMED ESAWY

• Hypoplastic foot in
acardiac twin,
sagittal, 24 weeks
Dr/AHMED ESAWY

• Split hand-foot
syndrome. Note
gap between the
medial and (fused)
lateral toes,
Dr/AHMED ESAWY

Hypoplasia of the foot
• Varying degrees of hypoplasia of the foot and
abnormality of the ankle joint occur with tibial
hemimelia. This condition occurs in
100:10,000 live births. It may be isolated,
usually as a new mutation, or part of a
number of syndromes.
Dr/AHMED ESAWY

• Tibial hemimelia, 22
weeks (unilateral and
isolated). F: femur, T:
tibia; arrowhead,
hypoplastic foot lying
posterior to tibia.
Dr/AHMED ESAWY

Sirenomelia
• The sirenomelia sequence shows varying
degrees of fusion of the lower limbs. The feet
may be absent (apus), fused (monopus), or
separate (dipus). It is not clear whether it
represents part of the caudal regression
spectrum or is due to an alteration in early
vascular development4
Dr/AHMED ESAWY

• The relationship of leg and foot should also be
assessed to rule out clubfoot.
Dr/AHMED ESAWY

Jarcho–Levin syndrome
• This is a heterogeneous disorder, characterized by
vertebral and rib abnormalities (misalignment of
the cervical spine and ribs). An autosomal
recessive type is characterized by a constricted
short thorax and respiratory death in infancy.
• Another autosomal recessive and an autosomal
dominant type are associated with a short stature
and are compatible with survival to adult life but
with some degree of physical disability.
Dr/AHMED ESAWY

LIMB DEFICIENCY
OR CONGENITAL
AMPUTATIONS
Dr/AHMED ESAWY

Arthrogryposis (multiplex congenita) is a clinical or imaging
descriptor that denotes congenital non-progressive joint
contractures involving two or more body regions.
Epidemiology
• It is thought to occur in approximately 1:3000-10,000 live
births .
Pathology
• It can result from a number of pathologies. Altered fetal
movement (fetal akinesia) is considered a contributor in
pathogenesis. Genetic causes may be present in only 30%
of cases. Dr/AHMED ESAWY
Arthrogryposis

Associations
• Arthrogryposis can be associated with numerous syndromic as well as
non-syndromic associations:
• syndromic
– Pena-Shokeir syndrome
– multiple pterygium syndrome
– Fowler syndrome
– Freeman Sheldon syndrome
• non-syndromic/isolated
– CNS anomalies: can be present in ~10% of cases
• agenesis of the corpus callosum
• lissencephaly
• fetal ventriculomegaly
• aplasia of the cerebellar vermis
– neuromuscular disorders
• amyoplasia congenita: some report that this is one of most common causative
associations
Dr/AHMED ESAWY

Radiographic features
• Antenatal ultrasound
• A lack of fetal movement is considered to be a key feature. Abnormalities are present at
birth and are not progressive over time. Fixed contractures and lack of mobility results in
poor muscle formation and development in affected regions.
• Antenatal ultrasound may additionally show direct evidence of contractures h as:
• abnormal limb/extremity positioning
– clenched hands
– knotted fingers
– persistently extended legs
– persistently bent legs
• clubbed feet
• scoliosis: long C-shape neurogenic type
• and/or indirect features such as:
• short umbilical cord
• oligohydramnios
• polyhydramnios : some forms
• pulmonary hypoplasia
• camptodactyly
• micrognathia Dr/AHMED ESAWY

11-Fetal skeletal system part 2 Dr Ahmed Esawy

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11-Fetal skeletal system part 2 Dr Ahmed Esawy