[Smith-McCort syndrome (author's transl)].
An 13-year-old mentally normal boy with short-trunked dwarfism is discribed as a case of the Smith-McCort syndrome (SMC-syndrome). His disease has been observed radiologically, clinically an histologically for many years. According to Spranger (23) this disorder differs from the Dyggve-Melchior-Clausen disease (DMC-syndrome) by lacking oligophrenia. Beside a characteristic flattening of the vertebral bodies both syndromes show a lacelike appearance of the iliac crest (crest sign) as a significant radiological sign. Both syndromes appear to be inherited as an autosomal recessive trait.
D000293:Adolescent; D003937:Diagnosis, Differential; D004392:Dwarfism / Q000175:diagnosis* / Q000000981:diagnostic imaging; D005528:Foot / Q000000981:diagnostic imaging; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D006820:Hyaluronic Acid; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D009083:Mucopolysaccharidoses / Q000175:diagnosis; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging; D013577:Syndrome
D006820:Hyaluronic Acid
Smith-McCort-Syndrom.