Severe lymphedema, intestinal lymphangiectasia, seizures and mild mental retardation: Further case of Hennekam syndrome with a severe phenotype

被引：10

作者：

Forzano, F

Faravelli, F

Loy, A

Di Rocco, M

机构：

[1] Galliera Hosp, Lab Human Genet, I-16128 Genoa, Italy

[2] Gaslini Hosp, Dept Pediat 2, Genoa, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 2002年 / 111卷 / 01期

关键词：

Hennekam syndrome; elephantiasis; intestinal lymphangiectasia; seizures;

D O I：

10.1002/ajmg.10509

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on an Italian patient affected by severe lymphedema of lower limbs, genitalia and face, intestinal lymphangiectasia, seizures, and moderate mental retardation. He has a flat face, flat nasal bridge, and hypertelorism. We propose that he presents with a severe form of Hennekam syndrome. (C) 2002 Wiley-Liss, Inc.

引用

页码：68 / 70

页数：3

共 15 条

[1]

Angle B, 1997, AM J MED GENET, V71, P211, DOI 10.1002/(SICI)1096-8628(19970808)71:2<211::AID-AJMG17>3.3.CO

[2]

2-E

[3] CRANIOSYNOSTOSIS AND KIDNEY MALFORMATION IN A CASE OF HENNEKAM SYNDROME [J].

CORMIERDAIRE, V ;

LYONNET, S ;

LEHNERT, A ;

MARTIN, D ;

SALOMON, R ;

PATEY, N ;

BROYER, M ;

RICOUR, C ;

MUNNICH, A .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 57 (01) :66-68

[4] Hennekam syndrome [J].

Erkan, T ;

Kutlu, T ;

Çullu, F ;

Çelik, M ;

Demir, T ;

Tüysüz, B ;

Tümay, GT .

ARCHIVES DE PEDIATRIE, 1998, 5 (12) :1344-1346

[5] Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome [J].

Fang, JM ;

Dagenais, SL ;

Erickson, RP ;

Arlt, MF ;

Glynn, MW ;

Gorski, JL ;

Seaver, LH ;

Glover, TW .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (06) :1382-1388

[6] Truncating mutations in FOXC2 cause multiple lymphedema syndromes [J].

Finegold, DN ;

Kimak, MA ;

Lawrence, EC ;

Levinson, KL ;

Cherniske, EM ;

Pober, BR ;

Dunlap, JW ;

Ferrell, RE .

HUMAN MOLECULAR GENETICS, 2001, 10 (11) :1185-1189

[7] INTESTINAL LYMPHANGIECTASIA, LYMPHEDEMA, MENTAL-RETARDATION, AND TYPICAL FACE - CONFIRMATION OF THE HENNEKAM SYNDROME [J].

GABRIELLI, O ;

CATASSI, C ;

CARLUCCI, A ;

COPPA, GV ;

GIORGI, P .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1991, 40 (02) :244-247

[8] AUTOSOMAL RECESSIVE INTESTINAL LYMPHANGIECTASIA AND LYMPHEDEMA, WITH FACIAL ANOMALIES AND MENTAL-RETARDATION [J].

HENNEKAM, RCM ;

GEERDINK, RA ;

HAMEL, BCJ ;

HENNEKAM, FAM ;

KRAUS, P ;

RAMMELOO, JA ;

TILLEMANS, AAW .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (04) :593-600

[9] Two brothers with Hennekam syndrome and cerebral abnormalities [J].

Huppke, P ;

Christen, HJ ;

Sattler, B ;

Hanefeld, F .

CLINICAL DYSMORPHOLOGY, 2000, 9 (01) :21-24

[10] Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase [J].

Irrthum, A ;

Karkkainen, MJ ;

Devriendt, K ;

Alitalo, K ;

Vikkula, M .

AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (02) :295-301

← 1 2 →