HOLOPROSENCEPHALY AND POSTAXIAL POLYDACTYLY WITH NORMAL CHROMOSOMES - ANOTHER OBSERVATION OF A NEW MALFORMATION SYNDROME - A CASE-REPORT

被引：7

作者：

RAMAEKERS, PR

LEGIUS, E

VERLOES, A

GILLEROT, Y

VANDENBERGHE, K

FRYNS, JP

机构：

[1] ST ANNA KLIN,DEPT OBSTET,BERINGEN,NETHERLANDS

[2] CATHOLIC UNIV LEUVEN,CTR HUMAN GENET,B-3000 LOUVAIN,BELGIUM

[3] CATHOLIC UNIV LEUVEN,DEPT GYNAECOL & OBSTET,B-3000 LOUVAIN,BELGIUM

[4] CHU LIEGE,CTR GENET HUMAINE,LIEGE,BELGIUM

[5] INST MORPHOL PATHOL,LOVERVAL,BELGIUM

来源：

EUROPEAN JOURNAL OF OBSTETRICS GYNECOLOGY AND REPRODUCTIVE BIOLOGY | 1990年 / 36卷 / 1-2期

关键词：

Hirschsprung's disease; Holoprosencephaly; Hypogenitalism; Median pseudocleft of upper lip; Postaxial polydactyly;

D O I：

10.1016/0028-2243(90)90062-6

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

A newborn boy is described with semilobar holoprosencephaly, cebocephaly with single nostril, median pseudocleft of upper lip, postaxial polydactyly, hypogenitalism, Hischsprung's disease and survival till the age of 13 weeks. Chromosomal analysis on lymphocytes was normal. Up to now, three other patients with this malformation complex have been described. Together with the present patient, they are apparently the first examples of a new malformation syndrome. © 1990.

引用

页码：161 / 165

页数：5

共 7 条

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