- Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome.
Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome.
American journal of medical genetics. Part A (2009-11-19)
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
PMID19921646
RÉSUMÉ
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.
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