ABSTRACT
Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder with classical features of macroglossia,exomphalocele and gigantism. Estimated incidence rate of BWS is 1in 13,700 in population. The incidence ofBWS is equal in both the sexes. We got a rare case of Beckwith-Wiedemann syndrome in our NICU. Thediagnosis is made by clinical findings suggestive of BWS. Baby born with a macroglossia and abdominal walldefects (exomphalocele), ear anomalies, renal abnormalities seen under ultrasound and neonatal hypoglycemia.Additional supportive findings were polyhydramnios and LGA baby, cardiomegaly, hemangioma over face,enlarged placenta and characteristic facies and infraorbital creases.
ABSTRACT
El onfalocele es un defecto de la pared abdominal a nivel de la línea media caracterizado por la herniación de contenido abdominal y recubierto por peritoneo y amnios. El objetivo de esta comunicación es presentar un caso de onfalocele con edad gestacional de 23 sem y su diagnóstico prenatal por ultrasonografía. Mediante diagnóstico ecográfico en una pesquisa realizada a una paciente de 40 años de edad en el segundo trimestre (edad gestacional de 23 semanas), mostró a nivel de la pared anterior fetal imagen ecogénica que protruye a través de la pared abdominal y a continuación se localiza el cordón umbilical. Se observó estómago desplazado y pérdida de la anatomía normal de la circunferencia abdominal. Se realizó asesoramiento genético en el Centro Municipal de Genética de Manzanillo. Anatomopatológicamente el feto presentó cuello corto y ancho, orejas de implantación baja, defecto del cierre del conducto onfalomesentérico, saco herniario ocupado por el lóbulo cuadrado del hígado y lecho vesicular, corazón con base ancha que muestra a la disección cava-cava, ausencia de tabique interventricular, estenosis de la válvula pulmonar y dilatación supravalvular de la arteria pulmonar, defecto amplio del tabique intraventicular y aorta cabalgada, lo que habla a favor de una cardiopatía troncoconal del tipo trilogía de Fallop, más el onfalocele. El diagnóstico prenatal por ultrasonografía es un método eficaz y fiable para el diagnóstico prenatal de onfalocele.
Omphalocele is an abdominal wall defect at the midline characterized by herniation of abdominal contents and covered by peritoneum and amnion. The aim of this paper is to present a case of omphalocele with gestational age of 23 weeks and prenatal diagnosis by ultrasonography. Using ultrasound diagnosis in a patient pesquiza made 40 years of age in the second trimester (gestational age 23 weeks) showed a level of the anterior fetal echogenic image that sticks through the abdominal wall and then locate the cord umbilical. Stomach is seen displaced and loss of normal anatomy of the abdominal circumference. Genetic counseling was conducted at the Municipal Center for Genetics of Manzanillo. Anatomopatolágicamente the fetus presented short and wide neck, low-set ears, defect omphalomesenteric of ductal closure, hernia sac occupied by the caudate lobe of the liver and gallbladder bed, wide base heart dissection showing cava-cava absence of interventricular septum was observed pulmonary valve stenosis most dilation of supravalvular pulmonary artery, large defect and aorta intraventricular septum ride, which speaks in favor of a heart rate troncoconal fallop trilogy over the omphalocele. Prenatal diagnosis by ultrasonography is an efficient and reliable method for prenatal diagnosis of omphalocele.
ABSTRACT
An unregistered case of a 27-year-old multipara with 8 years married life was admitted on 3/11/09 at 10.30 pm with complaints of tightness of abdomen, backache and draining per vagina and delivered a fetus of 19 weeks in cephalic presentation with omphalocele (i.e., stomach, liver, bowel and bladder protruding into the proximal part of umbilical cord) on 5/11/09 at 9.00 pm at Sameena Maternity and Nursing Home, Hyderabad, Andhra Pradesh.