Which of the following is associated with > 20% risk of chromosomal anomalies?
Correct Answer: Omphalocele
Description: Omphalocele is a midline abdominal wall defect. The abdominal viscera (commonly liver and bowel) are contained within a sac composed of peritoneum and amnion from which the umbilical cord arises at the apex and center. When the defect is less than 4 cm, it is termed a hernia of the umbilical cord; when greater than 10 cm, it is termed a giant omphalocele. Associated abnormalities occur in 30-70% of infants and include, in descending order of frequency, Chromosomal abnormalities (trisomy 13, 18, 21) Congenital hea disease (tetralogy of Fallot, atrial septal defect) Beckwith-Wiedemann syndrome (large-for-gestational-age baby; hyperinsulinism; visceromegaly of kidneys, adrenal glands, and pancreas; macroglossia; hepatorenal tumors; cloacal extrophy) Pentalogy of Cantrell Prune belly syndrome (absent abdominal wall muscles, genitourinary abnormalities, cryptorchidism) Ref: Albanese C.T., Sylvester K.G. (2010). Chapter 43. Pediatric Surgery. In G.M. Dohey (Ed), CURRENT Diagnosis & Treatment: Surgery, 13e.
Category:
Pathology
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