[Articular contracture with dwarfism and normal intelligence: a new autosomal dominant familial syndrome].
A father and his daughter has the same features: short stature, the distal phalanges, the wrists, the elbows, the feet and the knees were flexed. All other joints had abnormal range of motion. Kypho-scoliosis was present in the father only. Father's family was normal. Upon X-rays examination no abnormalities could be seen. This syndrome is inherited as autosomal dominant.
D000328:Adult; D003286:Contracture / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics*; D004550:Elbow; D005260:Female; D005528:Foot; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D007360:Intelligence; D007717:Knee; D008297:Male; D012600:Scoliosis / Q000235:genetics; D013577:Syndrome
Contracture articulaire avec petite taille et intelligence normale: un syndrome familial autosomique dominant.