Crisponi syndrome: Report of a further patient

被引：24

作者：

Accorsi, P

Giordano, L

Faravelli, F

机构：

[1] Spedali Civili, Div Neuropsichiat Infantile, I-25125 Brescia, Italy

[2] Osped Galliera, SC Genet Umana, Genoa, Italy

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2003年 / 123A卷 / 02期

关键词：

Crisponi syndrome; muscle contraction; hypertermia;

D O I：

10.1002/ajmg.a.20292

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Crisponi syndrome was described in the original paper in 17 patients form 12 families [Crisponi, 1996: Am J Med Genet 62:365-371]. It is characterised by episodes of muscle contraction in response to external stimuli and intermittent hypethermia with neonatal onset. The disease is often lethal in the first infancy. We describe a patient with the same unusual phenotype. (C) 2003 Wiley-Liss, Inc.

引用

页码：183 / 185

页数：3

共 8 条

[1] Characterization of a long-term survivor with Stuve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome [J].

Chen, E ;

Cotter, PD ;

Cohen, RA ;

Lachman, RS .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 101 (03) :240-245

[2]

Cormier-Daire V, 1998, AM J MED GENET, V78, P146, DOI 10.1002/(SICI)1096-8628(19980630)78:2<146::AID-AJMG9>3.0.CO

[3]

2-M

[4]

Crisponi G, 1996, AM J MED GENET, V62, P365, DOI 10.1002/(SICI)1096-8628(19960424)62:4<365::AID-AJMG8>3.0.CO

[5]

2-Q

[6]

Kozlowski K, 1996, AM J MED GENET, V63, P17

[7]

Superti-Furga A, 1998, AM J MED GENET, V78, P150, DOI 10.1002/(SICI)1096-8628(19980630)78:2<150::AID-AJMG10>3.0.CO

[8]

2-M

← 1 →