PREVIOUSLY APPARENTLY UNDESCRIBED SYNDROME - SHALLOW ORBITS, PTOSIS, COLOBOMA, TRIGONOCEPHALY, GYRAL MALFORMATIONS, AND MENTAL AND GROWTH-RETARDATION

被引：37

作者：

RAMER, JC

LIN, AE

DOBYNS, WB

WINTER, R

AYME, S

PALLOTTA, R

LADDA, RL

机构：

[1] PENN STATE UNIV,CHILDRENS HOSP,DEPT PEDIAT,HERSHEY,PA

[2] FRANCISCAN CHILDRENS HOSP,NATL BIRTH DEFECTS CTR,BOSTON,MA

[3] UNIV MINNESOTA,SCH MED,DEPT NEUROL,MINNEAPOLIS,MN 55455

[4] INST CHILD HLTH,MOTHERCARE UNIT CLIN GENET & FETAL MED,LONDON,ENGLAND

[5] INSERM,PARIS,FRANCE

[6] UNIV G DANNUNZIO,CATHEDRA PEDIAT PREVENT & SOCIALE,CHIETI,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 57卷 / 03期

关键词：

MENTAL RETARDATION; MULTIPLE ANOMALY SYNDROME; TRIGONOCEPHALY; PACHYGYRIA; LISSENCEPHALY; CHROMOSOME; 2;

D O I：

10.1002/ajmg.1320570308

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe 2 children with severe ptosis, trigonocephaly, broad nasal bridge, and major brain malformation. A total of 8 children have been reported who share most of these findings. Two of the individuals have had identical pericentric inversions involving chromosome 2p12-q14. These cases appear to represent a unique malformation syndrome. (C) 1995 Wiley-Liss, Inc.

引用

页码：403 / 409

页数：7

共 14 条

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