A case report of prenatally diagnosed ophthalmo-acromelic syndrome type Waardenburg

Kara, F.; Yesildaglar, N.; Tuncer, R.A.; Semerci, N.; Onat, N.; Yilmazer, Y.C.; Sipahi, T.; ERKAYA, Salim

doi:10.1002/pd.331

A case report of prenatally diagnosed ophthalmo-acromelic syndrome type Waardenburg

Kara F., Yesildaglar N., Tuncer R., Semerci N., Onat N., Yilmazer Y., ...Daha Fazla

Prenatal Diagnosis, cilt.22, sa.5, ss.395-397, 2002 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 22 Sayı: 5
Basım Tarihi: 2002
Doi Numarası: 10.1002/pd.331
Dergi Adı: Prenatal Diagnosis
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.395-397
Anahtar Kelimeler: anophthalmia, acromelia, ophthalmo-acromelic syndrome, Waardenburg syndrome, autosomal recessive inheritance
Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

Ophthalmo-acromelic syndrome type Waardenburg is an extremely rare autosomal recessive syndrome comprising eye malformations ranging from true anophthalmia to mild microphthalmia with acromelic malformations. We report a case of ophthalmo-acromelic syndrome type Waardenburg diagnosed prenatally. Copyright © 2002 John Wiley & Sons, Ltd.