Expanding the Phenotype of Gingival Fibromatosis-Mental Retardation-Hypertrichosis (Zimmermann-Laband) Syndrome

被引：15

作者：

Chacon-Camacho, Oscar F. ^{[1
]}

Vazquez, Johanna ^{[2
]}

Zenteno, Juan C. ^{[1
,3
]}

机构：

[1] Inst Ophthalmol Conde de Valenciana, Dept Genet, Mexico City, DF, Mexico

[2] Hosp Especialidades Pediat, Dept Estomatol Pediat, Tuxtla Gutierrez Chiapas, Mexico

[3] Univ Nacl Autonoma Mexico, Fac Med, Dept Biochem, Mexico City 04510, DF, Mexico

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2011年 / 155A卷 / 07期

关键词：

Zimmermann-Laband syndrome; gingival fibromatosis; hypertrichosis; hemihyperplasia; polydactyly; intellectual disability; SENSORINEURAL HEARING-LOSS; SUPERNUMERARY TEETH; EPILEPSY; HIRSUTISM; 3P14.3;

D O I：

10.1002/ajmg.a.34030

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, hypertrichosis, intellectual disability, and absence and/or hypoplasia of the nails or terminal phalanges of the hands and feet. The syndromic features of ZLS are highly variable and can overlap with other entities featuring gingival fibrosis. This study describes a patient with ZLS with novel findings, including colpocephaly, hemivertebra, polydactyly, hyperpigmentation, and hemihyperplasia. Thus, the present report expands the phenotypic spectrum of this uncommon syndrome. (C) 2011 Wiley-Liss, Inc.

引用

页码：1716 / 1720

页数：5

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