单词 | Trichorhinophalangeal Syndrome Type II |
释义 | Trichorhinophalangeal Syndrome Type II《英文msh词典》Trichorhinophalangeal Syndrome Type II [同义词] Trichorhinophalangeal Syndrome Type II [主题词] Langer-Giedion Syndrome [中文释义] 毛发鼻指骨综合征Ⅱ型 [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). |
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