期刊
PRENATAL DIAGNOSIS
卷 22, 期 5, 页码 395-397出版社
JOHN WILEY & SONS LTD
DOI: 10.1002/pd.331
关键词
anophthalmia; acromelia; ophthalmo-acromelic syndrome; Waardenburg syndrome; autosomal recessive inheritance
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 oplithalmo-acromelic syndrome type Waardenburg diagnosed prenatally. Copyright (C) 2002 John Wiley Sons, Ltd.
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