POLYDACTYLY, CAMPOMELIA, AMBIGUOUS GENITALIA, CYSTIC DYSPLASTIC KIDNEYS, AND CEREBRAL MALFORMATION IN A FETUS OF CONSANGUINEOUS PARENTS - A NEW MULTIPLE MALFORMATION SYNDROME, OR A SEVERE FORM OF ORAL-FACIAL-DIGITAL SYNDROME TYPE-IV
POLYDACTYLY, CAMPOMELIA, AMBIGUOUS GENITALIA, CYSTIC DYSPLASTIC KIDNEYS, AND CEREBRAL MALFORMATION IN A FETUS OF CONSANGUINEOUS PARENTS - A NEW MULTIPLE MALFORMATION SYNDROME, OR A SEVERE FORM OF ORAL-FACIAL-DIGITAL SYNDROME TYPE-IV
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DOI：
10.1002/ajmg.1320490211
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发表时间：
1994-01-15
期刊：
影响因子：
--
通讯作者：
HAAN, EA
中科院分区：
文献类型：
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作者：
ADES, LC;CLAPTON, WK;HAAN, EA
我们描述了一个27周的胎儿，患有枕裂、多指畸形、先天性先天性畸形、腭裂、喉发育不良、眼结肠瘤、肝纤维化和肝内囊肿、生殖器模糊、囊性肾发育不良和脑畸形。这种异常模式很独特。并讨论了鉴别诊断。父母是表兄妹，很可能是常染色体隐性遗传。(C) 1994 Wiley-Liss, Inc。
We describe a 27-week fetus with occipitoschisis, polydactyly, campomelia, cleft palate, laryngeal dysplasia, ocular colobomata, hepatic fibrosis and intrahepatic cyst, ambiguous genitalia, cystic dysplastic kidneys, and brain malformation. This pattern of abnormalities appears unique. The differential diagnosis is discussed. The parents are first cousins, making autosomal recessive inheritance likely. (C) 1994 Wiley-Liss, Inc.