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菲利皮综合征:在所谓“颅指综合征”范围内的一种特定的大脑中动脉/智力障碍综合征。另一位患有特殊多翼状胬肉综合征患者的报告及文献综述

Filippi syndrome: a specific MCA/MR complex within the spectrum of so called "craniodigital syndromes". Report of an additional patient with a peculiar mpp and review of the literature.

作者信息

Franceschini P, Licata D, Guala A, Di Cara G, Franceschini D

机构信息

Dipartimento di Scienze Pediatriche e dell'Adolescenza, Università degli Studi di Torino, Italy.

出版信息

Genet Couns. 2002;13(3):343-52.

Abstract

Filippi syndrome is a specific Multiple Congenital Abnormalities/Mental Retardation (MCA/MR) complex which must not be confused with other so called "craniodigital syndromes", a heterogeneous group of pathological conditions simply lumped for the combination of different cranial and digital anomalies. We report on a new patient with the characteristic features of Filippi syndrome, comparing him with other reported cases and underlining the peculiar and specific shape of the nasal bridge. The metacarpophalangeal profile in our patient is also quite unusual and could be, if confirmed, a good marker of this syndrome.

摘要

菲利皮综合征是一种特定的多发性先天性异常/智力障碍(MCA/MR)综合征,绝不能与其他所谓的“颅指综合征”相混淆,后者是一组异质性病理状况,仅仅因为不同的颅骨和手指异常组合而被归为一类。我们报告了一名具有菲利皮综合征特征的新患者,将其与其他已报道病例进行比较,并强调鼻梁的独特形状。我们患者的掌指轮廓也颇为异常,如果得到证实,可能是该综合征的一个良好标志。

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