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] Placental Mesenchymal Dysplasia and Beckwith-Wiedemann Syndrome
Soejima, Hidenobu
Hara, Satoshi
Ohba, Takashi
Higashimoto, Ken
CANCERS, 2022, 14 (22)
[42] Surgical Outcomes of Patients with Beckwith-Wiedemann Syndrome
Style, Candace C.
Cruz, Stephanie M.
Lau, Patricio E.
Lee, Timothy C.
Wesson, David E.
Olutoye, Oluyinka O.
JOURNAL OF PEDIATRIC SURGERY, 2018, 53 (05) : 1042 - 1045
[43] The Beckwith-Wiedemann syndrome phenotype and the risk of cancer
Schneid, H
Vazquez, MP
Vacher, C
Gourmelen, M
Cabrol, S
LeBouc, Y
MEDICAL AND PEDIATRIC ONCOLOGY, 1997, 28 (06): : 411 - 415
[44] Brain abnormalities in patients with Beckwith-Wiedemann syndrome
Gardiner, Kate
Chitayat, David
Choufani, Sanaa
Shuman, Cheryl
Blaser, Susan
Terespolsky, Deborah
Farrell, Sandra
Reiss, Rosemary
Wodak, Shoshana
Pu, Shuye
Ray, Peter N.
Baskin, Berivan
Weksberg, Rosanna
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (06) : 1388 - 1394
[45] Conductive hearing loss in Beckwith-Wiedemann syndrome
Schick, B
Brors, D
Prescher, A
Draf, W
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 1999, 48 (02) : 175 - 179
[46] Prenatal diagnosis of paternal duplication of 11p15.5→ 14.3: Its implication of Beckwith-Wiedemann syndrome
Chen, Kuan Ju
Liu, Yu Mei
Li, Chien Hong
Chang, Yao Lung
Chang, Shuenn Dyh
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2016, 55 (06): : 877 - 880
[47] A review of the urologic manifestations of Beckwith-Wiedemann syndrome
Wong, Charlene A.
Cuda, Scott
Kirsch, Andrew
JOURNAL OF PEDIATRIC UROLOGY, 2011, 7 (02) : 140 - 144
[48] Antenatal manifestation of congenital pancreatoblastoma in a fetus with Beckwith-Wiedemann syndrome
Pelizzo, G
Conoscenti, G
Kalache, KD
Vesce, F
Guerrini, P
Cavazzini, L
PRENATAL DIAGNOSIS, 2003, 23 (04) : 292 - 294
[49] Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome
Chen, Chih-Ping
TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2012, 51 (02): : 186 - 191
[50] Metastatic Phyllodes Tumor in a Patient With Beckwith-Wiedemann Syndrome
Saini, Astha
Gupte, Trisha
Choudhury, Moumita S. R.
Jacques, Suzanne M.
Roxas, Renato
JOURNAL OF INVESTIGATIVE MEDICINE HIGH IMPACT CASE REPORTS, 2022, 10

← 1 2 3 4 5 →