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

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

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

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.

Original languageEnglish
Pages (from-to)2700-2705
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume149
Issue number12
DOIs
StatePublished - Dec 2009

Keywords

  • Cleft palate
  • Hypotelorism
  • Mental retardation
  • Schilbach-Rott syndrome

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