TY - JOUR
T1 - Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome
AU - Shkalim, Vered
AU - Baris, Hagit N.
AU - Gal, Gavriel
AU - Gleiss, Ruth
AU - Calderon, Shlomo
AU - Wessels, Marja
AU - Maat-Kievit, Anneke
AU - Menten, Björn
AU - De Baere, Elfride
AU - Hennekam, Raoul C.M.
AU - Schirmacher, Anja
AU - Bale, Sherri
AU - Shohat, Mordechai
AU - Willems, Patrick J.
PY - 2009/12
Y1 - 2009/12
N2 - 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.
AB - 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.
KW - Cleft palate
KW - Hypotelorism
KW - Mental retardation
KW - Schilbach-Rott syndrome
UR - http://www.scopus.com/inward/record.url?scp=71949111784&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.33095
DO - 10.1002/ajmg.a.33095
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AN - SCOPUS:71949111784
SN - 1552-4825
VL - 149
SP - 2700
EP - 2705
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 12
ER -