ultrasound diagnosis of fatal anomalies

SKELETAL ANOMALIES
Short Rib–Polydactyly Syndrome (SRPS) Type I (Saldino–Noonan)
and Type III (Naumoff)
Definition: This is a disorder with anomalies
consisting of short ribs, polydactyly, and short
limbs. Facial clefts are not seen here (as in SRPS
type II). SRPS types I and III are dealt with together
here, as it is believed to be the same syndrome
with varying expression.
Etiology/genetics: Autosomal-recessive inheritance.
Ultrasound findings: Head measurements seem
large. Short ribs and a narrow thorax are typically
seen. Anomalies of the vertebral bodies, such as
distortion, may also be observed. Characteristic
findings are shortening of the extremities and
polydactyly. Other associated symptoms include:
intestinal occlusion, anal atresia, renal hypoplasia,
polycystic kidneys, intersexual genitalia,
cardiac anomaly (DORV, AV canal, transposition).
It is possible to diagnose SRPS type I at
17weeks, with narrowed thorax, shortening of
the long bones and polydactyly. The diagnosis of
type III is made at 20 weeks due to micromelia,
anomaly of the vertebral bodies, and polydac-
Fig. 8.30 Short rib–polydactyly syndrome type I.
Cross-section of the lower thoracic aperture at
16+3weeksinafetuswithSRPS type I: shortening of
the ribs and deformation of the rib cage are seen.
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Fig. 8.31 Short rib–polydactyly syndrome type I.
Same fetus as before. The lower limb is seen, with
shortening and atypical shapes of the tibia and
fibula.
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