RESUMEN

The limb-body wall complex (LBWC) aka body stalk syndrome is an uncommon congenital disorder characterized by severe malformations of limb, thorax, and abdomen, characterized by the presence of thoracoschisis, abdominoschisis, limb defects, and exencephaly. This condition is extremely rare with an incidence of 1 per 14,000 and 1 per 31,000 pregnancies in large epidemiologic studies. Majority of these malformed fetuses end up with spontaneous abortions. We present this rare case with occurrence in a preterm infant of 35 weeks' gestation. Our report highlights majority of the clinical presentations as reported in previous literature, but the significant pathological findings of absent genitalia and malformed genitourinary as well as anorectal malformations make this case presentation an even more rare occurrence. Infant karyotyping was normal male and there is no specific underlying genetic correlation in this condition which has a fatal prognosis.

RESUMEN

Ardiçli B, Karaman A, Özyazici A, Zenciroglu A, Okumus N. Isolated thoracoschisis: Case report. Turk J Pediatr 2017; 59: 217-220. Thoracoschisis is a rare congenital anomaly that refers to a congenital fissure of the chest wall. It is frequently accompanied with other congenital defects of the limbs and the abdominal wall as part of the limb-body wall complex, which is exencephaly/encephalocele and facial clefts, thoracoschisis and/or abdominoschisis and limb defects. Isolated thoracoschisis is a rare entity. We present a case of isolated thoracoschisis. A 24-week gestational age boy presented with a 3 cm chest wall defect in the left lateral 10th intercostal space and intestines herniating through the defect. There was no history of maternal drug use during pregnancy. Birth weight was 500 g. He underwent surgery. The intestines were reduced via the thoracic wall defect.

Asunto(s)

RESUMEN

A term male baby, after delivery, was found to have a 3-centimeter beefy-red mass protruding from the left chest wall, adjacent to the left nipple. Radiological imaging suggested it's origin from the left lateral liver segment. A diagnostic laparoscopy confirmed the isolated connection to the liver, elevated left hemidiaphragm, and protrusion between the ribs. The mass was excised using electrocautery, and pathologic examination showed normal liver tissue.

RESUMEN

Thoracoschisis is a rare condition. A female newborn presented with right-sided thoracoschisis, associated with diaphragmatic hernia and protrusion of an accessory liver lobe through the chest wall defect along with deformity of the right forearm and hand duplication. Diagnosed as part of the limb-body wall complex (LBWC), management included resection of the exteriorized liver lobe followed by right hemidiaphragm and thoracic wall reconstruction.

RESUMEN

Thoracoschisis is an extremely rare congenital birth defect in which intra-abdominal organs eviscerate through a defect in the thoracic wall(1). There are only seven previously reported pediatric cases and in each case, there is some diaphragmatic anomaly, suggesting that the defect took place before complete formation of the diaphragm. Our patient was referred to us from a local hospital immediately after delivery. The patient was born with a thoracoschisis of the left side below the 8(th) intercostal space. The thoracoschisis was repaired. Although there is a high prevalence of cardiac defects among thoracoschisis patients, this patient shows only small atrial septal defects.

Asunto(s)

RESUMEN

A full-term male baby presented at day 2 postnatal with Riedel liver lobe, stomach, and much of the bowel herniating through a thoracic wall defect located just above and lateral to the left nipple. Operative conversion into a gastroschisis-like defect with construction of a silo bag was done. On thorough review of literature, it was found that this is only the second male infant reported with isolated thoracoschisis.

RESUMEN

A rare case of thoracoschisis, diaphragmatic and supraumbilical abdominal wall defect with right upper limb agenesis in a neonate is reported.