Limb Body Wall Complex with Sacrococcygeal Mass and Agenesis of External Genitalia

Abstract

Limb body wall complex (LBWC) is a rare clinicopathological entity, characterized by the presence of an abdominal wall defect associated with variable spectrum of limb and visceral anomalies. A stillborn baby of LBWC with placentoabdominal phenotype is reported here. Kyphoscoliosis, sacrococcygeal mass and agenesis of external genitalia are the associated features.

Rare Presentation of Limb–Body Wall Complex in a Neonate: Case Report and Review of Literature

“…9 Similar LBWC with placentoabdominal phenotype is reported by Baruah and Ray Choudhury in an infant born with similar kyphoscoliosis, sacrococcygeal mass, and agenesis of external genitalia. 10 Prenatal diagnosis is possible by detection of very high maternal serum α-fetoprotein and by sonographic visualization of the characteristic defects at the end of the first gestational trimester. Ultrasonographic features include a major abdominal wall defect, severe kyphoscoliosis, a short or absent or rudimentary umbilical cord, and limb abnormalities.…”

Anatomy‐based diagnostic criteria for complex body wall anomalies (CBWA)

“…Type IV Abdominoschisis, spinal defect, anomalous umbilical cord, nonstructural limb defect or no limb defect, anal atresia or urinary and/or genital defect. Baruah & Choudhur, 2013;Bugge, 2012 Cases: 4 a , 5, 7, 8, 11, 12, 14, 15;Chen et al, 2007 Cases: 2, 3, 8;Chikkannaiah et al, 2013;Coleman et al, 2018 Cases: 3, 4;Colpaert et al, 2000 Cases: 2, 3, 4;Craven et al, 1997 Cases: 2-5;Cusí et al,1996 Cases: 1, 2;Daskalakis & Nicolaides, 2002 Case 1;Daskalakis et al, 2003;Deruelle et al, 2000 Cases: 2, 4;D'Souza et al, 2004;Gajzer et al, 2015 Cases: 1, 4;Ginsberg et al, 1997;Gulczyński et al, 2019 Case 10;Litwin et al, 1988 Cases: 1, 2;Managoli et al, 2003;Mandrekar et al, 2014;Maruyama et al, 2015;Mathai et al, 2009 a ;Moerman et al, 1992 Case 7;Negishi et al, 1998 Cases: 1, 3;Patten et al, 1986 Case 1;Prasun et al, 2008;Pumberger et al, 2001 Case 3;Russo et al, 1993 Cases: 1-7;Sahinoglu et al, 2007 Case 2;Saritha et al, 2013;Smrcek et al, 2003 Case 8;Tang et al, 1991 57/189…”

“…In the original articles, LBWC was diagnosed in 148 cases (two of them with sirenomelia), BSA in 42 cases, OEIS in five cases, ABS in three cases, LBWC/BSA in three cases, Arici et al, 2004;Bugge, 2012 Cases: 2, 3 a , 9, 10;Chen et al, 2007 Cases: 4, 7;Chen et al, 2009;Coleman et al, 2018 Case 2;Craven et al, 1997 Case 1; Das et al, 2013;Fukumasu et al, 1993;Hartwig et al, 1989 Baruah & Choudhur, 2013;Bugge, 2012 Cases: 4 a , 5, 7, 8, 11, 12, 14, 15;Chen et al, 2007 Cases: 2, 3, 8;Chikkannaiah et al, 2013;Coleman et al, 2018 Cases: 3, 4;Colpaert et al, 2000 Cases: 2, 3, 4;Craven et al, 1997 Cases: 2-5;Cusí et al,1996 Cases: 1, 2; Case 1; Daskalakis et al, 2003;Deruelle et al, 2000 Cases: 2, 4;D'Souza et al, 2004;Gajzer et al, 2015 Cases: 1, 4;Ginsberg et al, 1997;Litwin et al, 1988 Cases: 1, 2; Managoli et al, 2003;Mandrekar et al, 2014;Maruyama et al, 2015;Mathai et al, 2009 a ;Negishi et al, 1998 Cases: 1, 3;Patten et al, 1986 Case 1;Prasun et al, 2008;Pumberger et al, 2001 Case 3;Russo et al, 1993 Cases: 1-7; Sahinoglu et al, 2007 Case 2;Saritha et al, 2013;Smrcek et al, 2003 Case 8;Tang et al, 1991 57/189 30.15% Type V Thoracoabdominoschisis, spinal ...…”

Rare Presentation of Limb–Body Wall Complex in a Neonate: Case Report and Review of Literature

“…al. in an infant born with similar kyphoscoliosis, sacrococcygeal mass and agenesis of external genitalia (10)…”