Two sisters with Toriello-Carey syndrome.
Toriello-Carey syndrome comprises agenesis of the corpus callosum, telecanthus, short palpebral fissures, small nose with anteverted nares, Robin sequence, abnormally shaped ears, cardiac defect, and hypotonia. We describe two Japanese sisters with a Toriello-Carey syndrome whose phenotypes were as severe as reported male cases. The younger sister died suddenly at age 4 months. Our patients with a severe phenotype and possible parental consanguinity suggest autosomal recessive inheritance of Toriello-Carey syndrome.
Chinen
Y
Y
Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.
Tohma
T
T
Izumikawa
Y
Y
Taketomi
H
H
Iha
T
T
Ohta
T
T
Naritomi
K
K
D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D003241:Consanguinity; D004374:Ductus Arteriosus, Patent / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000235:genetics*