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

[31] The Prenatal Diagnosis of Beckwith-Wiedemann Syndrome Using Ultrasound and Magnetic Resonance Imaging
Storm, Douglas W.
Hirselj, Daniel A.
Rink, Britton
O'Shaughnessy, Richard
Alpert, Seth A.
UROLOGY, 2011, 77 (01) : 208 - 210
[32] Prenatal sonographic diagnosis of Beckwith-Wiedemann syndrome in association with a single umbilical artery
Hamada, H
Fujiki, Y
Obata-Yasuoka, M
Watanabe, H
Yamada, N
Kubo, T
JOURNAL OF CLINICAL ULTRASOUND, 2001, 29 (09) : 535 - 538
[33] Proposal for Practical Approach in Prenatal Diagnosis of Beckwith-Wiedemann Syndrome and Review of the Literature
Ma, Gwo-Chin
Chen, Tze-Ho
Wu, Wan-Ju
Lee, Dong-Jay
Lin, Wen-Hsiang
Chen, Ming
DIAGNOSTICS, 2022, 12 (07)
[34] Prenatal phenotype in Beckwith-Wiedemann spectrum
Carli, D.
Bertola, C.
Cardaropoli, S.
Ciuffreda, V. P.
Pieretto, M.
Ferrero, G. B.
Mussa, A.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 144 - 144
[35] Prenatal detection of a congenital pancreatic cyst and Beckwith-Wiedemann syndrome
Fremond, B
Poulain, P
Odent, S
Milon, J
Treguier, C
Babut, JM
PRENATAL DIAGNOSIS, 1997, 17 (03) : 276 - 280
[36] Hyperinsulinism and Beckwith-Wiedemann syndrome
Munns, CFJ
Batch, JA
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, 2001, 84 (01): : F67 - F69
[37] IMPRINTING AND BECKWITH-WIEDEMANN SYNDROME
HOOVERS, JMN
DIETRICH, AJJ
MANNENS, MMAM
LANCET, 1992, 339 (8803): : 1228 - 1228
[38] Beckwith-Wiedemann syndrome and pregnancy
Walker, S.
Mohanraj, P.
Arora, R.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 2015, 122 : 311 - 312
[39] A non-linear Beckwith-Wiedemann syndrome diagnosis
Oliveira, Renata
Neto, Ana Paula
Canicais, Carla
Vasconcelos, Sara
Guardiano, Micaela
Marques, Joana
Doria, Sofia
Vilan, Ana
Grangeia, Ana
EUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 245 - 245
[40] Macroglossia and Beckwith-Wiedemann Syndrome
Krasic, Dragan
Radovic, Predrag
Buric, Nikola
Krasic, Dragana
Pesic, Zoran
Videnovic, Goran
SRPSKI ARHIV ZA CELOKUPNO LEKARSTVO, 2011, 139 (5-6) : 366 - 369

← 1 2 3 4 5 →