AN AUTOSOMAL RECESSIVE SYNDROME OF CLEFT-PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY (CCGE)

被引：13

作者：

GIANNOTTI, A

DIGILIO, MC

MINGARELLI, R

DALLAPICCOLA, B

机构：

[1] UNIV ROMA TOR VERGATA,DEPT PUBL HLTH & CELL BIOL,ROME,ITALY

[2] CSS HOSP,DEPT MED GENET,SAN GIOVANNI ROTO,ITALY

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 01期

关键词：

D O I：

10.1136/jmg.32.1.72

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome.

引用

页码：72 / 74

页数：3

共 6 条

[1] APPARENTLY NEW OCULO-CEREBRO-ACRAL SYNDROME [J].

ATKIN, JF ;

PATIL, S .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 19 (03) :585-587

[2]

GREENBERG F, 1987, American Journal of Medical Genetics, V26, P59, DOI 10.1002/ajmg.1320260111

[3] A PREVIOUSLY UNDESCRIBED AUTOSOMAL RECESSIVE MULTIPLE CONGENITAL-ANOMALIES MENTAL-RETARDATION (MCA MR) SYNDROME WITH GROWTH FAILURE, LIP PALATE CLEFT(S), AND UROGENITAL ANOMALIES [J].

MALPUECH, G ;

DEMEOCQ, F ;

PALCOUX, JB ;

VANLIEFERINGHEN, P .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1983, 16 (04) :475-480

[4]

RICHIERICOSTA A, 1987, REV BRAS GENET, V10, P787

[5] ECTRODACTYLY, CLEFT-LIP PALATE SYNDROME [J].

RODINI, ESO ;

FREITAS, JAS ;

RICHIERICOSTA, A .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 38 (04) :539-541

[6] EEC SYNDROME - REPORT ON 20 NEW PATIENTS, CLINICAL AND GENETIC CONSIDERATIONS [J].

RODINI, ESO ;

RICHIERICOSTA, A .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 37 (01) :42-53

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