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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doi.org/10.1002/ajmg.a.33095, hdl.handle.net/1765/24057
American Journal of Medical Genetics. Part A
Erasmus MC: University Medical Center Rotterdam

Shkalim, V, Baris, H.N, Gal, G, Gleiss, R, Calderon, S, Wessels, M.W, … Willems, P.J. (2009). Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome. American Journal of Medical Genetics. Part A, 149(12), 2700–2705. doi:10.1002/ajmg.a.33095