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Fryns anophthalmia-plus syndrome: two rare cases

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

Genetic Counseling 25(4): 395-398

2014

ISSN/ISBN: 1015-8146
PMID: 25804017
Document Number: 673851
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.

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