VP10.19: Congenital diaphragmatic hernia and bilateral microphthalmia: prenatal diagnosis of microphthalmia syndrome type 12

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منابع مشابه

Bilateral Congenital Diaphragmatic Hernia

Bilateral congenital diaphragmatic hernia (CDH) is a rare birth defect, with a poor prognosis. We describe a case of bilateral CDH discovered while repairing the right sided CDH. Diaphragmatic defect was repaired and a silo was applied on the abdominal wound to avoid abdominal compartment syndrome. The patient however died postoperatively due to severe pulmonary hypertension.

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[Prenatal diagnosis of congenital diaphragmatic hernia: an update].

Congenital diaphragmatic hernia (CDH) has an incidence of approximately 1:4000 live births. Most frequently the diaphragmatic defect is a left and posterolateral (Bochdalek) one. Prenatal diagnosis is made at ultrasonography; the relevant sonographic features will be described in the paper. Cystic adenomatoid malformation of the lung (CAML), pulmonary sequestration, bronchogenic cysts, pulmonar...

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Antenatal diagnosis of congenital diaphragmatic hernia.

Congenital diaphragmatic hernia occurs in approximately 1 of 2200 live births and is associated with a high degree of morbidity and mortality. Poor outcome in these cases is primarily related to the presence of additional anomalies or abnormal karyotype and the development of pulmonary and cardiovascular complications. Prenatal diagnosis occurs in approximately 50% of cases. Multiple ultrasound...

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A Case with the Combination of Bilateral Microphthalmia, Unilateral Pulmonary Agenesis, Diaphragmatic Eventration and Atrial Septal Defect: PDAC Syndrome

The combination of pulmonary agenesis and anophtalmia or microphthalmia has been described previously. This condition is known as Matthew-Wood syndrome and PDAC syndrome (pulmonary hypoplasia/ agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect). We report a sporadic case of female infant with the combination of bilateral microphthalmia, unilateral right ...

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Prenatal diagnosis, prediction of outcome and in utero therapy of isolated congenital diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) can be associated with genetic or structural anomalies with poor prognosis. In isolated cases, survival is dependent on the degree of lung hypoplasia and liver position. Cases should be referred in utero to tertiary care centers familiar with this condition both for prediction of outcome as well as timed delivery. The best validated prognostic indicator is ...

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ژورنال

عنوان ژورنال: Ultrasound in Obstetrics & Gynecology

سال: 2020

ISSN: 0960-7692,1469-0705

DOI: 10.1002/uog.22476