具有白内障、小头畸形、关节异常、性腺功能减退和骨肉瘤的类瓦登伯革氏综合征特征。
Waardenburg-like features with cataracts, small head size, joint abnormalities, hypogonadism, and osteosarcoma.
作者信息
Parry D M, Safyer A W, Mulvihill J J
出版信息
J Med Genet. 1978 Feb;15(1):66-9. doi: 10.1136/jmg.15.1.66.
Abstract
A 32-year-old black man was observed with osteosarcoma and multiple anomalies including deafness, hypopigmentation, cataracts, small head size, hypogonadism, and restricted joint mobility. The birth defects may comprise a new syndrome or combination of syndromes, of which the malignancy may be a part.
摘要
一名32岁的黑人男性被观察到患有骨肉瘤，并伴有多种异常情况，包括耳聋、色素减退、白内障、小头畸形、性腺功能减退和关节活动受限。这些出生缺陷可能构成一种新的综合征或多种综合征的组合，其中恶性肿瘤可能是一部分。
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