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Expanding the phenotype of gingival fibromatosis–mental retardation–hypertrichosis (Zimmermann–Laband) syndrome
Author(s) -
ChaconCamacho Oscar F.,
Vázquez Johanna,
Zenteno Juan C.
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34030
Subject(s) - hypertrichosis , medicine , dermatology , hyperpigmentation , phalanx , anatomy
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. © 2011 Wiley‐Liss, Inc.

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