Greig cephalopolysyndactyly syndrome with oral manifestations: A rare case report

被引：0

作者：

Unni, Jiji V. ^{[1
]}

Daryani, Deepak ^{[1
]}

Sreejan, K. C. ^{[1
]}

Uthkal, P. M. ^{[1
]}

机构：

[1] Malabar Dent Coll & Res Ctr, Dept Oral Med & Radiol, Edappal, Kerala, India

来源：

INTERNATIONAL JOURNAL OF APPLIED AND BASIC MEDICAL RESEARCH | 2020年 / 10卷 / 02期

关键词：

Greig cephalopolysyndactyly syndrome; hypertelorism; macrocephaly; polydactyly;

D O I：

10.4103/ijabmr.IJABMR_391_18

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Greig cephalopolysyndactyly syndrome (GCPS) is one of the autosomal dominant-inherited syndromes, caused by haploinsufficiency of the GLI3 gene. It is a rare, multiple congenital syndrome with an estimated rate of 0.009%. With the classic clinical triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly, presumptive diagnosis of GCPS is made. The purpose of this article is to report a case of GCPS with emphasis on craniofacial and oral features.

引用

页码：140 / 142

页数：3

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