Post-mortem babygram, SRPS type III, lateral view.
Clinically, the foetal abnormalities include micromelic dwarfism, polydactyly of hands and feet, cleft lip/palate, and narrow thorax.
Radiologically, there is rhizomelia with metaphyseal spikes of the long bones, giving a "ball in cone" appearance. The hands and feet are well ossified with post-axial polydactyly in both hands and feet, although this may not always be the case. The scapulae have an irregular outline, and the thorax is narrow, with short ribs. The vertebrae are reduced in height and have irregular contours with increased disc space. The iliac bones are triangular and small, with prominent spikes at the sciatic notch. The skull vault is well ossified, with frontal bulging and a flattened occiput. Other reported abnormalities include renal, gastrointestinal, cardiovascular and genital anomalies.
Differential diagnoses include other SRPS, particularly type I; Ellis-van Creveld syndrome; and asphyxiating thoracic dysplasia. Distinguishing features of Type I SRPS from Type III SRPS include the absence of fibulas, a female preponderance, pointed femoral ends and more urological and cardiovascular abnormalities.
The risk of recurrence of this condition in another pregnancy is 25%. There are no specific biochemical or histopathological markers for SRPS and therefore early ultrasound is a valuable tool for identification.
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