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一名伊朗婴儿的耳-腭-指综合征

Oto-palato-digital syndrome in an Iranian infant.

作者信息

Farhud D D, Walizadeh G R, Farhud I

机构信息

Department of Human Genetics and Anthropology, Amir-Kabir Hospital, Tehran Medical Science University, Vallie Assr Sq.

出版信息

Monatsschr Kinderheilkd. 1989 Oct;137(10):681-3.

PMID:2555708
Abstract

A male infant is presented with wide fontanels, micrognathia, mid-face hypoplasia, hypertelorism, broad nasal root, down-slanting palpebral fissures, small thorax, funnel chest, short wide toes, camptodactyly and cutaneous syndactyly of fingers and toes, dysplastic bones with thin wavy ribs and bowed femore, cryptorchidism, and hypospadias grade I. The mother of this infant showed some signs of the same condition, including hypertelorism, micrognathia, small nose with depressed bridge, flat mid-face, impacted teeth and small chest. This case shows many similarities to oto-palatal-digital syndrome types I and II.

摘要

一名男婴表现为囟门宽大、小颌畸形、面中部发育不全、眼距增宽、鼻根宽阔、睑裂向下倾斜、胸廓小、漏斗胸、脚趾短而宽、手指和脚趾屈曲挛缩及皮肤并指、骨骼发育异常伴肋骨细且呈波浪状及股骨弯曲、隐睾和Ⅰ度尿道下裂。该婴儿的母亲有一些相同病症的体征,包括眼距增宽、小颌畸形、鼻梁凹陷的小鼻子、面中部扁平、牙齿阻生和胸部小。此病例与Ⅰ型和Ⅱ型耳腭指综合征有许多相似之处。

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