Work

Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach–Rott syndrome

Year: 2009

Type: article

Abstract: We present a family segregating for an autosomal dominant syndrome of hypotelorism, cleft palate/uvula, high-arched palate and mild mental retardation. Although these findings may suggest a form of holoprosencephaly, no holoprosencephaly was found on MRI of the proposita. Results of genetic studies were normal including FISH for deletion of 22q11, karyotype analysis, fragile X testing, high-resolution comparative genomic hybridization and SEPT9, SHH mutation analysis. The syndrome is reminiscent of the infrequently recognized autosomal dominant Schilbach-Rott syndrome.

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.33095

Authors: Vered Shkalim, Hagit N. Baris, Gavriel Gal, Ruth Gleiss, Shlomo Calderon, Marja Wessels, Anneke Maat‐Kievit, Björn Menten, Elfride De Baere, Raoul C.M. Hennekam, Anja Schirmacher, Sherri Bale, Mordechai Shohat, Patrick J. Willems

Institutions: Tel Aviv University, Rabin Medical Center, Schneider Children's Medical Center, Erasmus MC, Ghent University Hospital, Great Ormond Street Hospital, Amsterdam UMC Location University of Amsterdam, University of Amsterdam, University of Münster, University Hospital Münster

Language: English

Topic: Cleft Lip and Palate Research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2016766470

FWCI: 0.194

Cites: 18

Cited by: 6

Related to: 10