MACROSTOMIA, ECTROPION, ATROPHIC SKIN, HYPERTRICHOSIS - ANOTHER OBSERVATION

被引：26

作者：

DAVID, A

GORDEEFF, A

BADOUAL, J

DELAIRE, J

机构：

[1] CHRU NANTES,DEPT ORAL & MAXILLO FACIAL SURG,F-44035 NANTES,FRANCE

[2] HOP ST VINCENT DE PAUL,DEPT PEDIAT,F-75674 PARIS 14,FRANCE

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 39卷 / 01期

关键词：

PARTIAL LID AGENESIS; ECTROPION; MACROSTOMIA; HYPERTRICHOSIS; ATROPHIC SKIN;

D O I：

10.1002/ajmg.1320390124

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a boy with bilateral ectropion, ocular hypertelorism, bulbous nose, macrostomia with thin lips, abnormal ears, hypertrichosis of the forehead, neck and back, atrophic skin with hypoplastic nipples. Cause and inheritance are unknown.

引用

页码：112 / 115

页数：4

共 5 条

[1]

BARBER N, 1982, SYNDROME IDENT, V8, P6

[2] LID AGENESIS-MACROSTOMIA-PSYCHOMOTOR RETARDATION FOREHEAD HYPERTRICHOSIS - A NEW SYNDROME [J].

CESARINO, EJ ;

PINHEIRO, M ;

FREIREMAIA, N ;

MEIRASILVA, MC .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1988, 31 (02) :299-304

[3] ABLEPHARON MACROSTOMIA SYNDROME [J].

HORNBLASS, A ;

REIFLER, DM .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 1985, 99 (05) :552-556

[4]

MCCARTHY GT, 1977, DEV MED CHILD NEUROL, V19, P659

[5]

MCKUSICK VA, 1988, MENDELIAN INHERITANC, V1

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