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

被引：25

作者：

ADES, LC

CLAPTON, WK

MORPHETT, A

MORRIS, LL

HAAN, EA

机构：

[1] WOMENS & CHILDRENS HOSP,ADELAIDE CHILDRENS HOSP DIV,DEPT ORGAN IMAGING,ADELAIDE,SA,AUSTRALIA

[2] FLINDERS MED CTR,DEPT HISTOPATHOL,BEDFORD PK,SA,AUSTRALIA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1994年 / 49卷 / 02期

关键词：

LETHAL DISORDER; NEW SYNDROME; CONSANGUINITY; POLYDACTYLY; CAMPOMELIA; AMBIGUOUS GENITALIA; RENAL CYSTIC DYSPLASIA; BRAIN MALFORMATION;

D O I：

10.1002/ajmg.1320490211

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：211 / 217

页数：7

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