一例具有一些新特征的局灶性真皮发育不全（戈尔茨综合征）。
A case of focal dermal hypoplasia (Goltz syndrome) with some new aspects.
作者信息
Beganović N, Lommen E J
出版信息
Acta Paediatr Scand. 1977 Mar;66(2):255-6. doi: 10.1111/j.1651-2227.1977.tb07844.x.
Abstract
A case of Focal Dermal Hypoplasia (Goltz syndrome), diagnosed at birth, is reported. Some findings not formerly described (hemimelia, schizis of the palatum molle and the absence of one umbilical artery) are reported. Normal findings in chromosome studies with banding techniques are discussed.
摘要
报告了1例出生时诊断为局灶性真皮发育不全（戈尔茨综合征）的病例。报告了一些以前未描述的发现（半侧肢体发育不全、软腭裂和单脐动脉缺失）。讨论了染色体显带技术研究的正常结果。
Zotero 插件