《英文msh词典》Acrodysplasia V
[同义词] Acrodysplasia V
[主题词] Langer-Giedion Syndrome
[中文释义] 肢体发育不良Ⅴ
[英文释义] Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. Mental retardation and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES,HEREDITARY MULTIPLE).