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

 

• Toriello HV, Carey JC, Addor M-C, et al. Toriello-Carey syndrome: delineation and review. American Journal of Medical Genetics, 123A: 84-90, 2003

• 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

• Uras N, Sandal G, Oğuz S, et al. Toriello-Carey syndrome in a Turkish newborn. Genetic Counseling, 20: 243-247, 2009

• 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

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