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Wieacker–Wolff syndrome with associated cleft palate in a female case
Author(s) -
Godfrey Natalie D.,
Dowlatshahi Samandar,
Martin Madelena M.,
Rothkopf Douglas M.
Publication year - 2018
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.38527
Subject(s) - muscle contracture , phenotype , medicine , medical genetics , pediatrics , intellectual disability , genetics , surgery , biology , psychiatry , gene
Wieacker–Wolff syndrome is a rare congenital syndrome with few reported cases in the current literature. It is traditionally described in males as an X‐linked recessive disorder associated with congenital contractures of the feet, progressive neurologic muscular atrophy, and intellectual delay caused by ZC4H2 mutations. The purpose of this paper is to present a female individual with a classic phenotype and cleft palate, a previously undescribed finding in this syndrome. Recent reports have demonstrated that females are rarely severely affected and phenotypic expression is difficult to predict [Zanzottera et al. ([Zanzottera, C., 2017]); American Journal of Medical Genetics Part A 173A: 1358–1363]. This case supports the unpredictability of Wieacker–Wolff syndrome severity and prompts future questions regarding female mutations and phenotypic expression.