Unusual prenatal presentation of Beckwith-Wiedemann syndrome

被引：7

作者：

Mulik, V

Wellesley, D

Sawdy, R

Howe, DT

机构：

[1] Princess Anne Hosp, Wessex Fetal Med Unit, Southampton SO15 6YA, Hants, England

[2] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England

[3] Poole Gen Hosp, Dept Obstet, Poole, Dorset, England

来源：

PRENATAL DIAGNOSIS | 2004年 / 24卷 / 07期

关键词：

prenatal diagnosis; fetal hepatomegaly; Beckwith-Wiedemann syndrome;

D O I：

10.1002/pd.913

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

When Beckwith-Wiedemann syndrome (BWS) is detected prenatally, it is usually on the basis of macroglossia, exomphalos or enlarged kidneys. We describe a case that presented as gross hepatomegaly and a suspected enlarged pancreas at 20 weeks' gestation, with none of the usual features. Copyright (C) 2004 John Wiley Sons. Ltd.

引用

页码：501 / 503

页数：3

共 8 条

[1] Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects [J].

DeBaun, MR ;

Niemitz, EL ;

McNeil, DE ;

Brandenburg, SA ;

Lee, MP ;

Feinberg, AP .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 70 (03) :604-611

[2]

Drut RM, 1996, AM J MED GENET, V62, P145, DOI 10.1002/(SICI)1096-8628(19960315)62:2<145::AID-AJMG6>3.0.CO

[3]

2-V

[4]

PATTERSON GT, 1988, FETAL DIAGN THER, V9, P256

[5] Wiedemann-Beckwith syndrome: Further prenatal characterization of the condition [J].

Reish, O ;

Lerer, I ;

Amiel, A ;

Heyman, E ;

Herman, A ;

Dolfin, T ;

Abeliovich, D .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 107 (03) :209-213

[6] PRENATAL-DIAGNOSIS IN AUTOSOMAL DOMINANT BECKWITH-WIEDEMANN SYNDROME [J].

VILJOEN, DL ;

JAQUIRE, Z ;

WOODS, DL .

PRENATAL DIAGNOSIS, 1991, 11 (03) :167-175

[7]

WIEACKER P, 1989, J PERINAT MED, V17, P351

[8] PRENATAL-DIAGNOSIS OF THE BECKWITH-WIEDEMANN SYNDROME [J].

WINTER, SC ;

CURRY, CJR ;

SMITH, JC ;

KASSEL, S ;

MILLER, L ;

ANDREA, J .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 24 (01) :137-141

← 1 →