COSTELLO SYNDROME

被引：77

作者：

DERKALOUSTIAN, VM

MOROZ, B

MCINTOSH, N

WATTERS, AK

BLAICHMAN, S

机构：

[1] MCGILL UNIV,SCH MED,DEPT PEDIAT,DIV MED GENET,MONTREAL H3A 2T5,QUEBEC,CANADA

[2] MCGILL UNIV,SCH MED,DEPT PEDIAT,DIV DERMATOL,MONTREAL H3A 2T5,QUEBEC,CANADA

[3] MCGILL UNIV,SCH MED,DEPT PATHOL,MONTREAL H3A 2T5,QUEBEC,CANADA

[4] MCGILL CTR HUMAN GENET,MONTREAL,QUEBEC,CANADA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 41卷 / 01期

关键词：

COSTELLO SYNDROME; PAPILLOMATA; MENTAL RETARDATION;

D O I：

10.1002/ajmg.1320410118

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

In 1971, Costello described a new syndrome in 2 patients. The major clinical findings comprise short stature; redundant skin of the neck, palms, soles, and fingers; curly hair; relative macrocephaly; depressed nasal bridge; papillomata around the mouth and nares; distinct facial gestalt; hyperextensible joints; and mental retardation. We present a third patient and review the manifestations of this condition.

引用

页码：69 / 73

页数：5

共 6 条

[1]

COSTELLO JM, 1977, AUST PAEDIATR J, V13, P114

[2]

LEVER WF, 1991, HISTOPATHOLOGY SKIN, P411

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[4] THE CFC SYNDROME - REPORT OF THE 1ST 2 CASES OUTSIDE THE UNITED-STATES [J].

NERI, G ;

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AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (04) :767-771

[5] THE NOONAN SYNDROME - COMMENT [J].

OPITZ, JM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1985, 21 (03) :515-518

[6] NEW MULTIPLE CONGENITAL-ANOMALIES MENTAL-RETARDATION SYNDROME WITH CARDIO-FACIO-CUTANEOUS INVOLVEMENT - THE CFC SYNDROME [J].

REYNOLDS, JF ;

NERI, G ;

HERRMANN, JP ;

BLUMBERG, B ;

COLDWELL, JG ;

MILES, PV ;

OPITZ, JM .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 25 (03) :413-427

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