Clinical features involve the skeleton
(deformities of both lower and upper limbs, short humeri and femora,
tapering of the proximal femur with absence of the femoral head, deformed
acetabula, lumbosacral spine deformation with four lumbar vertebral bodies,
absence of the coccygeal bone and the calcaneus, absence of one metatarsal
and metacarpal bone in both feet and hands with partial syndactyly of toes
and fingers), facial deformities (micrognathia, small, low-set, malformed
ears without external meatus, double cleft lip/palate), and the urogenital
tract (malfunctioning horseshoe kidney, cryptorchidism). Other abnormalities
include truncus arteriosus, bilateral bilobular lungs, and parathyroid
aplasia. Both siblings had almost identical malformations, including the
truncus arteriosus, and both died in the neonatal period.