Fryns mikroftalmi sendromu

Fryns mikroftalmi sendromu, otosomal resesif yolla aktarılan kalıtsal bir sendromdur.[1] Mikroftalmi sendromları kümesinin elemanıdır.

Her iki göz de çok küçüktür (mikroftalmi) ya da gelişememiş bir taslak biçimindedir. Kulak memesi yoktur, dış kulak yolu geniştir. İki taraflı (bilateral) yüz, dudak ve damak yarıkları vardır. Uterus gelişiminde yetersizlik saptanır (uterus unicornis). Sakrumda nöral tüp defektleri görülür. Endokrin sistem sorunları (hipotiroidizm, adrenal korteks hipoplazis) olabilir.[1][2][3][4]

Kaynakça

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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[:0-1] 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

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

[3] 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

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