INTESTINAL LYMPHANGIECTASIA, LYMPHEDEMA, MENTAL-RETARDATION, AND TYPICAL FACE - CONFIRMATION OF THE HENNEKAM SYNDROME

被引：27

作者：

GABRIELLI, O ^{[1
]}

CATASSI, C ^{[1
]}

CARLUCCI, A ^{[1
]}

COPPA, GV ^{[1
]}

GIORGI, P ^{[1
]}

机构：

[1] HOSP LANCIANO,DEPT PEDIAT,LANCIANO,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 40卷 / 02期

关键词：

INTESTINAL LYMPHANGIECTASIA; LYMPHEDEMA; SEIZURES; MULTIPLE PTERYGIA; HENNEKAM SYNDROME; AUTOSOMAL RECESSIVE INHERITANCE;

D O I：

10.1002/ajmg.1320400223

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a male with intestinal lymphangiectasia, mild mental retardation, seizures, and a typical face; the syndrome was first delineated by Hennekam et al., Am. J. Med. Genet. 34:593-600 [1989]. His parents are consanguineous. This case seems to confirm the existence of the Hennekam syndrome.

引用

页码：244 / 247

页数：4

共 5 条

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[2] MULTIPLE PTERYGIUM SYNDROME
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[3] LIMB PTERYGIUM SYNDROMES - A REVIEW AND REPORT OF 11 PATIENTS
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[4] AUTOSOMAL RECESSIVE INTESTINAL LYMPHANGIECTASIA AND LYMPHEDEMA, WITH FACIAL ANOMALIES AND MENTAL-RETARDATION
HENNEKAM, RCM
GEERDINK, RA
HAMEL, BCJ
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TILLEMANS, AAW
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (04): : 593 - 600
[5] JONES KL, 1988, SMITHS RECOGNIZABLE, P560

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