Autosomal dominant syndrome of mental retardation, hypotelorism, and cleft palate resembling Schilbach-Rott syndrome.
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.
Shkalim
Vered
V
The Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital and Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
Baris
Hagit N
HN
Gal
Gavriel
G
Gleiss
Ruth
R
Calderon
Shlomo
S
Wessels
Marja
M
Maat-Kievit
Anneke
A
Menten
Björn
B
De Baere
Elfride
E
Hennekam
Raoul C M
RC
Schirmacher
Anja
A
Bale
Sherri
S
Shohat
Mordechai
M
Willems
Patrick J
PJ
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D002972:Cleft Palate / Q000150:complications* / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D003598:Cytoskeletal Proteins / Q000235:genetics; D005260:Female; D019204:GTP-Binding Proteins / Q000235:genetics; D005799:Genes, Dominant / Q000235:genetics*; D053823:Hedgehog Proteins / Q000235:genetics; D006801:Humans; D006972:Hypertelorism / Q000150:complications* / Q000235:genetics*; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics; D011247:Pregnancy; D058112:Septins; D013577:Syndrome; D051879:Twist-Related Protein 1 / Q000235:genetics; D055815:Young Adult
D003598:Cytoskeletal Proteins; D053823:Hedgehog Proteins; D009687:Nuclear Proteins; C509239:SHH protein, human; C103173:TWIST1 protein, human; D051879:Twist-Related Protein 1; D019204:GTP-Binding Proteins; C474315:SEPTIN9 protein, human; D058112:Septins