Toriello-Carey sendromu
Kalıtsal - AR
Mikrosefali
Gelişme geriliği
Boyun kısa
Boyun derisi kalın
Hipertelorizm
Ptozis
Displastik kulaklar
İşitme sorunları
Küçük-basık burun
Pierre Robin sequence bulguları
Kalp defektleri
Kardiyomyopati bulguları
Larinks hipoplazisi
Trakea stenozu
Dar toraks
Süpernümerer kostalar
Herniler
Gastrointestinal anomaliler
Anüs anomalileri
İnmemiş testis
Parmak anomalileri
Hipotoni
Corpus callosum agenezi/hipoplazisi
Serebellum hipoplazisi
Zeka geriliği
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Toriello HV, Carey JC, Addor M-C, et al. Toriello-Carey syndrome: delineation and review. American Journal of Medical Genetics, 123A: 84-90, 2003
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Barisic I, Peter B, Mikecin L. Further delineation of the Toriello-Carey syndrome: a report of two siblings. American Journal of Medical Genetics, 116A: 188-191, 2003
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Uras N, Sandal G, Oğuz S, et al. Toriello-Carey syndrome in a Turkish newborn. Genetic Counseling, 20: 243-247, 2009
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Yokoo N, Marumo C, Nishida Y, et al. A case of Toriello-Carey syndrome with severe congenital tracheal stenosis. American Journal of Medical Genetics, 161A: 2291-2293, 2013