Brief clinical report: short rib-polydactyly syndrome, Majewski type.
We describe a baby with external and internal anomalies of the Majewski form of the short rib-polydactyly (SRP) syndromes. Previously unreported abnormal vertebral bodies, delayed ossification of the sternum and fibulae, and a diencephalic hamartoma are noted. These abnormalities and minimal histologic abnormality at the chondro-osseous junction suggest that this syndrome may be heterogeneous or more variable than previously known.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000473:pathology*; D004392:Dwarfism / Q000473:pathology*; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D012272:Ribs / Q000002:abnormalities*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*