Apert syndrome without craniosynostosis

被引：1

作者：

Ramos, Diego de Angelis ^{[1
]}

Matushita, Hamilton ^{[1
]}

Cardeal, Daniel Dante ^{[1
]}

Gambarra Nascimento, Clarissa Nobrega ^{[1
]}

Teixeira, Manoel Jacobsen ^{[1
]}

机构：

[1] Univ Sao Paulo, Sch Med, Hosp Clin, St Eneas de Carvalho 255, Pinheiros, SP, Brazil

来源：

CHILDS NERVOUS SYSTEM | 2019年 / 35卷 / 03期

关键词：

Apert syndrome; Craniosynostosis; Fibroblast growth factor receptors (FGFR)2; Atypical case; GROWTH-FACTOR RECEPTOR-3; MUTATIONS; DOMAIN;

D O I：

10.1007/s00381-019-04050-1

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

BackgroundApert syndrome is a rare form of syndromic craniosynostosis, also known as acrocephalosyndactyly, which is a disorder characterized by a unique set of craniofacial, hand, and foot abnormalities. Diagnosis is made through a genetic analysis, where the mutation of FGFR2, Ser252Trp, and Pro253Arg confirms the diagnosis.Case presentationAlthough craniosynostosis is the most common characteristic in clinical presentation, we present an atypical case of a one-and-a-half-year-old girl with Apert syndrome confirmed by genetic testing but without craniosynostosis.

引用

页码：565 / 567

页数：3

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