BECKWITH-WIEDEMANN SYNDROME - DIFFICULTIES WITH PRENATAL-DIAGNOSIS

被引：12

作者：

NOWOTNY, T

BOLLMANN, R

PFEIFER, L

WINDT, E

机构：

[1] Institute of Medical Genetics, Perinatal Medicine Working Group, Berlin

来源：

FETAL DIAGNOSIS AND THERAPY | 1994年 / 9卷 / 04期

关键词：

BECKWITH-WIEDEMANN SYNDROME; HYDRONEPHROSIS; PRENATAL DIAGNOSIS; ULTRASOUND; ZELLWEGERS SYNDROME;

D O I：

10.1159/000263943

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Beckwith-Wiedemann syndrome (BWS), though a well-delineated clinical and morphological entity, can be difficult to diagnose by prenatal ultrasound examination when incomplete forms occur. We present a case with sonographic results including hydronephrosis, cardiomegalia, hepatomegalia, macroglossia, and prominent forehead. No abdominal wall defect was detected. Karyotype was normal. In spite of intensive prenatal diagnostics, BWS could not be diagnosed definitely until birth.

引用

页码：256 / 260

页数：5

共 50 条

[41] MACROGLOSSIA IN BECKWITH-WIEDEMANN SYNDROME
GRACE, JB
HEROMAN, WM
KORNBLUT, AD
TRANSACTIONS AMERICAN ACADEMY OF OPHTHALMOLOGY AND OTOLARYNGOLOGY, 1977, 84 (01): : 116 - 119
[42] RADIOLOGY OF BECKWITH-WIEDEMANN SYNDROME
LEE, FA
RADIOLOGIC CLINICS OF NORTH AMERICA, 1972, 10 (02) : 261 - &
[43] Anesthesia in Beckwith-Wiedemann syndrome
Celiker, V
Basgul, E
Karagoz, AH
PEDIATRIC ANESTHESIA, 2004, 14 (09) : 778 - 780
[44] PRENATAL ULTRASOUND DIAGNOSIS OF BECKWITH - WIEDEMANN SYNDROME
SHAH, YG
METLAY, L
JOURNAL OF CLINICAL ULTRASOUND, 1990, 18 (07) : 597 - 600
[45] MORE ON THE BECKWITH-WIEDEMANN SYNDROME
VANASSCHE, FA
SPITZ, B
SIEPRATH, P
EGGERMONT, E
DEVLIEGER, H
DIABETOLOGIA, 1986, 29 (07) : 468 - 468
[46] Anaesthesia and the Beckwith-Wiedemann syndrome
Suan, C
Ojeda, R
Perla, JL
PerezTorres, MC
PAEDIATRIC ANAESTHESIA, 1996, 6 (03): : 231 - 233
[47] Hypercalciuria in Beckwith-Wiedemann syndrome
Goldman, M
Shuman, C
Weksberg, R
Rosenblum, ND
JOURNAL OF PEDIATRICS, 2003, 142 (02): : 206 - 208
[48] Hypoglycemia in Beckwith-Wiedemann syndrome
DeBaun, MR
King, AA
White, N
SEMINARS IN PERINATOLOGY, 2000, 24 (02) : 164 - 171
[49] SONOGRAPHIC ASSESSMENT OF RENAL GROWTH IN PATIENTS WITH BECKWITH-WIEDEMANN SYNDROME: THE BECKWITH-WIEDEMANN SYNDROME RENAL NOMOGRAM
Ortiz-Neira, Clara L.
Traubici, Jeffrey
Alan, Daneman
Moineddin, Rahim
Shuman, Cheryl
Weksberg, Rosanna
Epelman, Monica
CLINICS, 2009, 64 (01) : 41 - 44
[50] Beckwith-Wiedemann syndrome: What do you search in prenatal diagnosis? About 14 cases
Le Valliant, C.
Beneteau, C.
Chan-Leconte, N.
David, A.
Riteau, A. -S.
GYNECOLOGIE OBSTETRIQUE & FERTILITE, 2015, 43 (11): : 705 - 711

← 1 2 3 4 5 →