Gastroschisis with Multiple Skeletal Deformities, Imperforate Anus and Absent Genitalia : A Rare Presentation

Gastroschisis is a rare type of congenital abdominal wall defect involving full thickness of anterior abdominal wall. Out of different varieties, gastroschisis is one of the severe forms with an incidence of about 1 in 10,000 live births. The deformity is more commonly seen in young mothers less than 20 years. They are usually small for gestational age and have a high mortality rate. Only 60% survive till the end of first year. Gastroschisis with intact bowel is known as simple and those with intestinal atresia, perforation and/or necrosis are called complex gastroschisis. Usually it is not associated with any other congenital malformations. We present a rare case of gastroschisis associated with other anomalies like limb defects, kyphosis, talipes equinovarus, imperforate anus, absence of external genitalia and nipples. This congenitally abnormal fetus was delivered by a 23 year old primy at 24 weeks of gestation and was diagnosed by ultrasound.