A lethal neonatal dwarfing condition with short ribs, polysyndactyly, cranial synostosis, cleft palate cardiovascular and urogenital anomalies and severe ossification defect.
A case of severe lethal neonatal dwarfism is reported. It appears to be a new variety of short rib-polydactyly dwarfism. It is characterized by severe lack of ossification of all bones except the clavicle and the presence of cleft palate, as well as genitourinary, central nervous system and cardiovascular anomalies. Electronmicroscopy revealed accumulations of granular material in the chondrocytes.
D000015:Abnormalities, Multiple / Q000473:pathology*; D002114:Calcinosis; D018376:Cardiovascular Abnormalities; D002356:Cartilage / Q000473:pathology; D002490:Central Nervous System / Q000002:abnormalities; D002972:Cleft Palate / Q000473:pathology; D003398:Craniosynostoses / Q000473:pathology*; D004392:Dwarfism / Q000151:congenital*; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D012272:Ribs / Q000002:abnormalities; D014034:Toes / Q000002:abnormalities; D014564:Urogenital Abnormalities