表现为巨头症和脑积水的亨特综合征。
Hunter syndrome presenting as macrocephaly and hydrocephalus.
作者信息
Yatziv S, Epstein C J
出版信息
J Med Genet. 1977 Dec;14(6):445-7. doi: 10.1136/jmg.14.6.445.
Abstract
A 2-year-old boy with macrocephaly, communicating hydrocephalus, and mild hepatosplenomegaly was found to have mild Hunter syndrome (MPS II). Establishment of the latter diagnosis was complicated by the paucity of obvious physical findings because of the patient's young age and his ethnic origin.
摘要
一名患有巨头畸形、交通性脑积水和轻度肝脾肿大的2岁男孩被诊断为轻度亨特综合征（黏多糖贮积症II型）。由于患者年龄小且具有特定种族背景，明显的体格检查结果较少，这使得后者的诊断变得复杂。
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本文引用的文献
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2
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3
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4
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