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 language | English (US) |
|---|---|
| Pages (from-to) | 167-170 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics, Part A |
| Volume | 176 |
| Issue number | 1 |
| DOIs | |
| State | Published - Jan 1 2018 |
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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 journal › Article
}
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 -