FRYNS ANOPHTHALMIA-PLUS SYNDROME: TWO RARE CASES

Bozkurt, ÖZLEM; Bidev, D.; Sari, F.; Dizdar, E.; Ulu, H.; Uras, N.; Oguz, S.; Canpolat, F.; Dilmen, U.

FRYNS ANOPHTHALMIA-PLUS SYNDROME: TWO RARE CASES

Bozkurt Ö., Bidev D., Sari F. N., Dizdar E. A., Ulu H. O., Uras N., ...Daha Fazla

GENETIC COUNSELING, sa.4, ss.395-398, 2014 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Basım Tarihi: 2014
Dergi Adı: GENETIC COUNSELING
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
Sayfa Sayıları: ss.395-398
Kocaeli Üniversitesi Adresli: Hayır

Özet

Fryns anophthalmia-plus syndrome: two rare cases: Fryns anophthalmia-plus syndrome is a rare syndrome with clinical diversity primarily including anophthalmia/microphthalmia, facial clefts, cleft lip/palate, ear and nasal deformities. Here we present two different cases of APS with anopthalmia/microphthalmia, cleft palate, low set ears, ventriculomegaly and one of which had intestinal non-fixation anomaly not described in the literature before.