The Lenz-Majewski hyperostotic dwarfism. A syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis.
A distinct syndrome is delineated on the basis of two previously reported and one newly described case. The syndrome combines multiple congenital anomalies with a progressive skeletal dysplasia-dysostosis, The gradual evolution of the skeletal disorder is demonstrated in the present patient. It will now be possible to diagnose this syndrome at birth.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging; D001848:Bone Diseases, Developmental / Q000150:complications; D002675:Child, Preschool; D004392:Dwarfism / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000000981:diagnostic imaging; D008297:Male; D011859:Radiography; D012598:Sclerosis / Q000150:complications / Q000000981:diagnostic imaging; D013577:Syndrome