A new syndrome of short stature, joint limitation and muscle hypertrophy.
A further case is presented of a new growth deficiency syndrome first reported by Myre et al. in 1981. The major clinical features are mental retardation, growth deficiency, muscular hypertrophy, joint limitation and abnormal skeletal radiography.
D000293:Adolescent; D001827:Body Height; D001842:Bone and Bones / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D006984:Hypertrophy; D008607:Intellectual Disability / Q000235:genetics; D007592:Joint Diseases / Q000235:genetics*; D008297:Male; D008423:Maternal Age; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics*; D010331:Paternal Age; D013577:Syndrome