1. Wieacker-Wolff syndrome with associated cleft palate in a female case.
- Author
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Godfrey ND, Dowlatshahi S, Martin MM, and Rothkopf DM
- Subjects
- Carrier Proteins genetics, Child, Preschool, Chromosomes, Human, X, Facies, Female, Genetic Testing, Humans, Intracellular Signaling Peptides and Proteins, Mutation, Nuclear Proteins, Pedigree, Phenotype, Apraxias diagnosis, Apraxias genetics, Cleft Palate diagnosis, Cleft Palate genetics, Contracture diagnosis, Contracture genetics, Genetic Association Studies, Genetic Diseases, X-Linked diagnosis, Genetic Diseases, X-Linked genetics, Muscular Atrophy diagnosis, Muscular Atrophy genetics, Ophthalmoplegia diagnosis, Ophthalmoplegia genetics
- Abstract
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. (); 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., (© 2017 Wiley Periodicals, Inc.)
- Published
- 2018
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