Main clinical features
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short long bones on ultrasound at 16 weeks gestation with polyhydramnios, severe shortening of long bones with bowed femurs, macrocephaly, short ribs, and ambiguous genitalia
postaxial polydactyly syndactyly of some fingers and toes, acetubular spurs, pancreatic fibrosis, mild dilatation of renal tubules, and enlarged liver with ductal plate malformation; also brachydactyly, conical epiphyses, hypoplastic trabecular, depressed nasal bridge, ventricular septal defect (VSD), focal cystic changes in the kidneys, prominent bile duct plates, and early evidence of pulmonary hypoplasia |