Wieacker–Wolff syndrome with associated cleft palate in a female case

Natalie D. Godfrey, Samandar Dowlatshahi, Madelena Martin, Douglas M. Rothkopf

Research output: Contribution to journalArticle

2 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)167-170
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume176
Issue number1
DOIs
StatePublished - Jan 1 2018

Fingerprint

Cleft Palate
Spinal Muscular Atrophy
Mutation
Medical Genetics
Contracture
Nervous System
Foot
Phenotype

Keywords

  • cleft palate
  • Wieacker–Wolff syndrome
  • ZC4H2

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Wieacker–Wolff syndrome with associated cleft palate in a female case. / Godfrey, Natalie D.; Dowlatshahi, Samandar; Martin, Madelena; Rothkopf, Douglas M.

In: American Journal of Medical Genetics, Part A, Vol. 176, No. 1, 01.01.2018, p. 167-170.

Research output: Contribution to journalArticle

Godfrey, Natalie D. ; Dowlatshahi, Samandar ; Martin, Madelena ; Rothkopf, Douglas M. / Wieacker–Wolff syndrome with associated cleft palate in a female case. In: American Journal of Medical Genetics, Part A. 2018 ; Vol. 176, No. 1. pp. 167-170.
@article{8277d26bcae649968722663ddbe3e95d,
title = "Wieacker–Wolff syndrome with associated cleft palate in a female case",
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.",
keywords = "cleft palate, Wieacker–Wolff syndrome, ZC4H2",
author = "Godfrey, {Natalie D.} and Samandar Dowlatshahi and Madelena Martin and Rothkopf, {Douglas M.}",
year = "2018",
month = "1",
day = "1",
doi = "10.1002/ajmg.a.38527",
language = "English (US)",
volume = "176",
pages = "167--170",
journal = "American Journal of Medical Genetics",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - Wieacker–Wolff syndrome with associated cleft palate in a female case

AU - Godfrey, Natalie D.

AU - Dowlatshahi, Samandar

AU - Martin, Madelena

AU - Rothkopf, Douglas M.

PY - 2018/1/1

Y1 - 2018/1/1

N2 - 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.

AB - 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.

KW - cleft palate

KW - Wieacker–Wolff syndrome

KW - ZC4H2

UR - http://www.scopus.com/inward/record.url?scp=85034234912&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85034234912&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.38527

DO - 10.1002/ajmg.a.38527

M3 - Article

C2 - 29150902

AN - SCOPUS:85034234912

VL - 176

SP - 167

EP - 170

JO - American Journal of Medical Genetics

JF - American Journal of Medical Genetics

SN - 1552-4825

IS - 1

ER -