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

✍ Scribed by 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

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 128 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33095

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✦ Synopsis

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. © 2009 Wiley‐Liss, Inc.

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