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Fryns mikroftalmi sendromu

Kalıtsal - AR

Bilateral anoftalmi/mikroftalmi

Dış kulak yolu geniş

Bilateral yüz yarıkları

Bilateral dudak yarıkları

Bilateral damak yarıkları

Uterus unicornis

Sakral nöral tüp defektleri

Bkz Mikroftalmi sendromları

 

• Fryns J-P, Legius E, Moerman P, et al. Apparently new 'anophthalmia-plus' syndrome in sibs. American Journal of Medical Genetics, 58: 113-114, 1995

• Wiltshire E, Moore M, Casey T, et al. Fryns 'anophthalmia-plus' syndrome associated with developmental regression. Clinical Dysmorphology, 12: 41-43, 2003

• Akain I, Şenses DA, Ilgın-Ruhi H, et al. A novel Fryns 'anophthalmia-plus' syndrome associated with primary hypothyroidism. Genetic Counseling, 16: 145-148, 2005

• Özalp O, Özçimen EE, Yılmaz Z, et al. Fryns anophthalmia-plus syndrome with hypoplastic adrenal glands. Genetic Counseling, 19: 43-46, 2008

 

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