Toriello-Carey syndrome: report of a new case.
Toriello-Carey syndrome is a malformation syndrome characterized by cranio-facial defects, visceral defects, congenital heart defects, hypotonia, and postnatal growth retardation. To our knowledge, only five patients with this condition have been reported. We describe another case of the Toriello-Carey syndrome extending the phenotypic manifestations of the syndrome.
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Centro di Genetica Umana, Ospedali Galliera, Genova, Italy.
Righi
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Romagnoli
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D000015:Abnormalities, Multiple / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007830:Larynx / Q000002:abnormalities; D010614:Pharynx / Q000002:abnormalities; D012886:Skull / Q000002:abnormalities; D013577:Syndrome