Burak ARDIÇLI, Ayşegül KARAMAN, Ahmet ÖZYAZICI, Ayşegül ZENCİROĞLU, Nurullah OKUMUŞ

Isolated thoracoschisis: Case report

Thoracoschisis is a rare congenital anomaly that refers to a congenital fissureof the chest wall. It is frequently accompanied with other congenital defectsof the limbs and the abdominal wall as part of the limb-body wall complex,which is exencephaly/encephalocele and facial clefts, thoracoschisis and/orabdominoschisis and limb defects. Isolated thoracoschisis is a rare entity.We present a case of isolated thoracoschisis. A 24-week gestational age boypresented with a 3 cm chest wall defect in the left lateral 10th intercostalspace and intestines herniating through the defect. There was no history ofmaternal drug use during pregnancy. Birth weight was 500 g. He underwentsurgery. The intestines were reduced via the thoracic wall defect.

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1. Davies MR, Rode H, Cywes S. “Thoracoschisis” associated with an ipsilateral distal phocomelia and an anterolateral diaphragmatic hernia--a case report. J Pediatr Surg 1977; 12: 755-757.

2. Derbent M, Balci S. Thoracoschisis associated with diaphragmatic hernia in a 31-week-old stillbirth. Turk J Pediatr 2001; 43: 269-271.

3. Van Allen MI, Curry C, Gallagher L. Limb body wall complex: I. Pathogenesis. Am J Med Genet 1987; 28: 529-548.

4. Martinez-Frias ML. Clinical and epidemiological characteristics of infants with body wall complex with and without limb deficiency. Am J Med Genet 1997; 73: 170-175.

5. Luebke HJ, Reiser CA, Pauli RM. Fetal disruptions: assessment of frequency, heterogeneity, and embryologic mechanisms in a population referred to a communitybased stillbirth assessment program. Am J Med Genet 1990; 36: 56-72.

6. Russo R, D’Armiento M, Angrisani P, Vecchione R. Limb body wall complex: a critical review and a nosological proposal. Am J Med Genet 1993; 47: 893-900.

7. Sahinoglu Z, Uludogan M, Arik H, et al. Prenatal ultrasonographical features of limb body wall complex: a review of etiopathogenesis and a new classification. Fetal Pediatr Pathol 2007; 26: 135-151.

8. Higginbottom MC, Jones KL, Hall BD, Smith DW. The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects. J Pediatr 1979; 95: 544-549.

9. Davies BR, Duran M. The confused identity of Cantrell’s pentad: ectopia cordis is related either to thoracoschisis or to a diaphragmatic hernia with an omphalocele. Pediatr Pathol Mol Med 2003; 22: 383-390.

10. Pumberger W, Schaller A, Bernaschek G. Limb-body wall complex: a compound anomaly pattern in bodywall defects. Pediatr Surg Int 2001; 17: 486-490.

11. Bamforth JS, Fabian C, Machin G, et al. Poland anomaly with a limb body wall disruption defect: case report and review. Am J Med Genet 1992; 43: 780-784.

12. Biri A, Korucuoglu U, Turp A, Karaoguz M, Himmetoglu O, Balci S. A new syndrome with prenatally diagnosed thoracoschisis, hiatal hernia and extremities’ agenesis: case report. Genet Couns 2006; 17: 161-165.

13. Karaman I, Karaman A, Erdogan D, Cavusoglu YH, Ozguner IF. The first male with thoracoschisis: case report and review of the literature. J Pediatr Surg 2011; 46: 2181-2183.

14. Bhattacharyya NC, Gogoi M, Deuri PK. Thoracoschisis with limb agenesis. J Indian Assoc Pediatr Surg 2012; 17: 78-79.

15. Seleim HM, ElFiky MM, Fares AE, Elbarbary MM. Isolated thoracoschisis: Case report and review of literature. European J Pediatr Surg Rep 2015; 3: 40-42.

16. McKay JD, Parker CM, Loewen J, et al. Thoracoschisis: A case report and review of literature. Fetal Pediatr Pathol 2015; 34: 307-314.