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 i...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Thieme Medical Publishers, Inc.
2022-01-01
|
| Series: | American Journal of Perinatology Reports |
| Subjects: | |
| Online Access: | http://www.thieme-connect.de/DOI/DOI?10.1055/a-1740-5463 |
| _version_ | 1811341689308053504 |
|---|---|
| author | Omoloro Adeleke Farrukh Gill Ramesh Krishnan |
| author_facet | Omoloro Adeleke Farrukh Gill Ramesh Krishnan |
| author_sort | Omoloro Adeleke |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T18:57:41Z |
| format | Article |
| id | doaj.art-e84a0d6880ea4e6f81a9c04ae31c0d18 |
| institution | Directory Open Access Journal |
| issn | 2157-6998 2157-7005 |
| language | English |
| last_indexed | 2024-04-13T18:57:41Z |
| publishDate | 2022-01-01 |
| publisher | Thieme Medical Publishers, Inc. |
| record_format | Article |
| series | American Journal of Perinatology Reports |
| spelling | doaj.art-e84a0d6880ea4e6f81a9c04ae31c0d182022-12-22T02:34:11ZengThieme Medical Publishers, Inc.American Journal of Perinatology Reports2157-69982157-70052022-01-011201e108e11210.1055/a-1740-5463Rare Presentation of Limb–Body Wall Complex in a Neonate: Case Report and Review of LiteratureOmoloro Adeleke0Farrukh Gill1Ramesh Krishnan2Department of Pediatrics, The University of Tennessee Health Science Center, Memphis, TennesseeDepartment of Pathology, The University of Tennessee Health Science Center, Memphis, TennesseeDepartment of Pediatrics, The University of Tennessee Health Science Center, Memphis, TennesseeThe 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.http://www.thieme-connect.de/DOI/DOI?10.1055/a-1740-5463limb–body wall complexbody stalk syndromelimb defectsthoracoschisisabdominoschisisomphalocelegastroschisis |
| spellingShingle | Omoloro Adeleke Farrukh Gill Ramesh Krishnan Rare Presentation of Limb–Body Wall Complex in a Neonate: Case Report and Review of Literature American Journal of Perinatology Reports limb–body wall complex body stalk syndrome limb defects thoracoschisis abdominoschisis omphalocele gastroschisis |
| title | Rare Presentation of Limb–Body Wall Complex in a Neonate: Case Report and Review of Literature |
| title_full | Rare Presentation of Limb–Body Wall Complex in a Neonate: Case Report and Review of Literature |
| title_fullStr | Rare Presentation of Limb–Body Wall Complex in a Neonate: Case Report and Review of Literature |
| title_full_unstemmed | Rare Presentation of Limb–Body Wall Complex in a Neonate: Case Report and Review of Literature |
| title_short | Rare Presentation of Limb–Body Wall Complex in a Neonate: Case Report and Review of Literature |
| title_sort | rare presentation of limb body wall complex in a neonate case report and review of literature |
| topic | limb–body wall complex body stalk syndrome limb defects thoracoschisis abdominoschisis omphalocele gastroschisis |
| url | http://www.thieme-connect.de/DOI/DOI?10.1055/a-1740-5463 |
| work_keys_str_mv | AT omoloroadeleke rarepresentationoflimbbodywallcomplexinaneonatecasereportandreviewofliterature AT farrukhgill rarepresentationoflimbbodywallcomplexinaneonatecasereportandreviewofliterature AT rameshkrishnan rarepresentationoflimbbodywallcomplexinaneonatecasereportandreviewofliterature |