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Two sisters with Toriello-Carey syndrome

โœ Scribed by Chinen, Yasutsugu; Tohma, Takaya; Izumikawa, Yoshinori; Taketomi, Hirohisa; Iha, Tetsu; Ohta, Takao; Naritomi, Kenji


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
12 KB
Volume
87
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19991126)87:3<262::aid-ajmg13>3.0.co;2-3

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โœฆ Synopsis


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


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