Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome.

Abstract

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.

• Authors: Oscar F Chacon-Camacho, Johanna Vázquez, Juan C Zenteno
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 155A Issue 7 Pg. 1716-20 (Jul 2011) ISSN: 1552-4833 [Electronic] United States
• PMID: 21626675 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011 Wiley-Liss, Inc.

Topics

• Abnormalities, Multiple (diagnosis, pathology)
• Child
• Craniofacial Abnormalities (diagnosis, pathology)
• Female
• Fibromatosis, Gingival (diagnosis, pathology)
• Hand Deformities, Congenital (diagnosis, pathology)
• Humans
• Phenotype