Familial congenital diaphragmatic hernia with anencephly – exencephaly and spina bifida

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Congenital diaphragmatic hernia with familial occurrence in a Taiwanese pedigree.

Congenital diaphragmatic hernia (CDH) is a developmental defect that accounts for 8% of all major congenital anomalies and is associated with a high mortality rate despite optimal postnatal treatment. Its etiology is uncertain. We report a case of familial CDH in a Taiwanese family. We believe autosomal recessive inheritance is the possible genetic etiology of CDH in this family.

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Congenital diaphragmatic hernia can be approached successfully using minimally invasive techniques. Although there are may be a suggestion of higher recurrence rates with thoracoscopic repair, this may be due to the learning curve. However, open repair is associated with additional morbidity, most notably an increased rate of small bowel obstruction. Appropriate patients who have congenital dia...

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Congenital diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) can be one of the most clinically challenging neonatal conditions. It occurs in 1 in 2-5000 live births in the UK with no predominance between the sexes. Herniation of abdominal contents into the thorax occurs, however it is the concomitant pulmonary hypoplasia and pulmonary hypertension that can be fatal. CDH was first described as an incidental finding at...

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Congenital Diaphragmatic Hernia

Congenital Diaphragmatic Hernia (CDH) is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malfo...

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Congenital Diaphragmatic Hernia

Departments of Pediatrics and Pediatric Surgery, National Taiwan University Hospital, National Taiwan University Medical College, Taipei; and Department of Pediatrics, Cardinal Tien Hospital, Taipei Hsien. Received: 12 July 2000. Revised: 21 August 2000. Accepted: 21 December 2000. Reprint requests and correspondence to: Dr. Kuo-Inn Tsou Yau, Department of Pediatrics, Cardinal Tien Hospital, 36...

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ژورنال

عنوان ژورنال: Polish Gynaecology

سال: 2015

ISSN: 0017-0011

DOI: 10.17772/gp/2004