Subscribe to RSS
Rare Presentation of Limb–Body Wall Complex in a Neonate: Case Report and Review of Literature
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.
Keywordslimb–body wall complex - body stalk syndrome - limb defects - thoracoschisis - abdominoschisis - omphalocele - gastroschisis
Compliance with Ethical Standards
Research involving human participants and/or animals–ethical approval: All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the Declaration of Helsinki 1964 and its later amendments or comparable ethical standards.
Informed consent was obtained from all individual participants included in the study.
Received: 16 August 2021
Accepted: 20 December 2021
Accepted Manuscript online:
14 January 2022
Article published online:
11 March 2022
© 2022. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
Thieme Medical Publishers, Inc.
333 Seventh Avenue, 18th Floor, New York, NY 10001, USA
- 1 Luehr B, Lipsett J, Quinlivan JA. Limb-body wall complex: a case series. J Matern Fetal Neonatal Med 2002; 12 (02) 132-137
- 2 Van Allen MI, Curry C, Gallagher L. Limb body wall complex: I. Pathogenesis. Am J Med Genet 1987; 28 (03) 529-548
- 3 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 (06) 893-900
- 4 Martínez-Frías ML. Clinical and epidemiological characteristics of infants with body wall complex with and without limb deficiency. Am J Med Genet 1997; 73 (02) 170-175
- 5 Bamforth JS. Amniotic band sequence: Streeter's hypothesis reexamined. Am J Med Genet 1992; 44 (03) 280-287
- 6 Hartwig NG, Vermeij-Keers C, De Vries HE, Kagie M, Kragt H. Limb body wall malformation complex: an embryologic etiology?. Hum Pathol 1989; 20 (11) 1071-1077
- 7 Gajzer DC, Hirzel AC, Saigal G, Rojas CP, Rodriguez MM. Possible genetic origin of limb-body wall complex. Fetal Pediatr Pathol 2015; 34 (04) 257-270
- 8 Viscarello RR, Ferguson DD, Nores J, Hobbins JC. Limb-body wall complex associated with cocaine abuse: further evidence of cocaine's teratogenicity. Obstet Gynecol 1992; 80 (3 Pt 2) 523-526
- 9 Martinez JM, Fortuny A, Comas C. et al. Body stalk anomaly associated with maternal cocaine abuse. Prenat Diagn 1994; 14 (08) 669-672
- 10 Baruah P, Ray Choudhury P. Limb body wall complex with sacrococcygeal mass and agenesis of external genitalia. Case Rep Med 2013; 2013: 218626
- 11 Gazolla AC, da Cunha AC, Telles JAB. et al. Limb-body wall defect: experience of a reference service of fetal medicine from Southern Brazil. Birth Defects Res A Clin Mol Teratol 2014; 100 (10) 739-749
- 12 Kanamori Y, Hashizume K, Sugiyama M. et al. Long-term survival of a baby with body stalk anomaly: report of a case. Surg Today 2007; 37 (01) 30-33
- 13 Litwin A, Merlob P, Grunebaum M. Complete absence of external genitalia in limb-body wall complex: two cases. J Med Genet 1988; 25 (05) 340-343
- 14 Colpaert C, Bogers J, Hertveldt K, Loquet P, Dumon J, Willems P. Limb-body wall complex: 4 new cases illustrating the importance of examining placenta and umbilical cord. Pathol Res Pract 2000; 196 (11) 783-790
- 15 Smith NM, Chambers HM, Furness ME, Haan EA. The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibs. J Med Genet 1992; 29 (10) 730-732
- 16 Gulczyński J, Świątkowska-Freund M, Paluchowski P, Hermann-Okoniewska B, Iżycka-Świeszewska E. Limb body wall complex - the history of the entity and presentation of our series of cases. Pol J Pathol 2019; 70 (01) 33-41