Expanding the phenotype of gingival fibromatosis–mental retardation–hypertrichosis (Zimmermann–Laband) syndrome
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 en...
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Veröffentlicht in: | American journal of medical genetics. Part A 2011-07, Vol.155 (7), p.1716-1720 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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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ISSN: | 1552-4825 1552-4833 1552-4833 |
DOI: | 10.1002/ajmg.a.34030 |