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漂浮港综合征

The Floating-Harbor syndrome.

作者信息

Majewski F, Lenard H G

机构信息

Institute of Human Genetics, Düsseldorf, Federal Republic of Germany.

出版信息

Eur J Pediatr. 1991 Feb;150(4):250-2. doi: 10.1007/BF01955523.

Abstract

We describe the seventh patient with the Floating-Harbor syndrome. Similar to previous cases in the literature this girl presented with proportionate intrauterine and postnatal growth retardation, normocephaly, triangular face with bulbous nose, long eyelashes, short upper lip, small vermilion border of upper lip, dorsally rotated ears, deep nuchal hair line, hirsutism, and clinodactyly of little fingers. She exhibited mental retardation and retarded speech development. Clinical symptoms and differential diagnosis of this rare syndrome are briefly discussed.

摘要

我们描述了第七例患有漂浮港综合征的患者。与文献中先前的病例相似,这名女孩表现出宫内和出生后成比例的生长发育迟缓、头围正常、三角形脸伴球根状鼻、长睫毛、上唇短、上唇唇红缘小、耳朵背向旋转、颈后发际线深、多毛症以及小指尺侧偏斜。她表现出智力发育迟缓以及语言发育迟缓。本文简要讨论了这种罕见综合征的临床症状和鉴别诊断。

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