MIDLINE FACIAL DEFECTS WITH OCULAR COLOBOMATA

被引：28

作者：

TEMPLE, IK

BRUNNER, H

JONES, B

BURN, J

BARAITSER, M

机构：

[1] UNIV NEW MEXICO, DIV HUMAN GENET, ALBUQUERQUE, NM 87131 USA

[2] HOSP SICK CHILDREN, DEPT CLIN GENET, LONDON WC1N 3JH, ENGLAND

[3] HOSP SICK CHILDREN, DEPT PLAST SURG, LONDON WC1N 3JH, ENGLAND

[4] CATHOLIC UNIV NIJMEGEN, DEPT HUMAN GENET, NIJMEGEN, NETHERLANDS

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 37卷 / 01期

关键词：

frontofacionasal 'dysplasia'; frontonasal 'dysplasia'; iris colobamata;

D O I：

10.1002/ajmg.1320370107

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We describe 5 children with midline facial anomalies and iris colobomata reminiscent of frontonasal 'dysplasia'. Two patients have, in addition, abnormalities of the eyelids and one of them probably has the rare autosomal recessive condition frontofacionasal 'dysplasia'. The patients may have a new syndrome of midline facial defects, iris colobomata, and mental retardation.

引用

页码：23 / 27

页数：5

共 11 条

[1]

BOO CK, 1965, PLAST RECONSTR SURG, V36, P626

[2]

COHEN M M JR, 1971, Birth Defects Original Article Series, V7, P117

[3] MEDIAN CLEFT FACE SYNDROME - DIFFERENTIAL DIAGNOSIS OF CRANIUM BIFIDUM OCCULTUM HYPERTELORISM AND MEDIAN CLEFT NOSE LIP AND PALATE [J].