Craniofacial: midface retraction, large fon-
tanelles, hypertelorism, low-set ears, choanal stenosis, macroglossia, short, broad
neck; hair: hypertrichosis; skin: facial telangiectasia, dermal ridge
hypoplasia, narrow nails; cardiac: atrial septal defect, other cardiac
defects; neurological: seizure, spasticity, developmental delay, cerebral atrophy;
renal: hydronephrosis, hydroureter; skeletal: hypoplastic ribs and broad
ribs, postaxial polydactyly, mesomelic brachymelia, hypoplastic distal phalanges,
hyperdense long tubular bone, broad ribs, clubbed feet, polysyndactyly; growth:
growth retardation. Affected patients usually die in early neonatal or infancy period.