Thoracoschisis associated with Limb Body Wall Complex

Vujović, Dragana; Sretenović, Aleksandar; Raičević, Maja; Lukač, Marija; Krstajic, Tamara; Ljubic, Vesna; Sindjic-Antunovic, Sanja

doi:10.21699/ajcr.v8i3.568

Cited by 8 publications

(4 citation statements)

References 11 publications

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“…4), rather than fitting completely into one of the traditional diagnostic silos, instead span across more than one of these diagnoses. 31,42,[45][46][47][48] In our own cohort, six of the seven complicated VBWD cases encountered over a 24-month period demonstrated just such a hybrid constellation of findings. The traditional diagnostic categories may obscure more than they reveal.…”

Section: Discussionmentioning

confidence: 99%

“…No craniofacial defects but abdominal-placental attachment with short/absent umbilical cord and urogenital anomalies 35 Body stalk anomaly Large abdominal wall defect with herniation of abdominal contents into the extraembryonic coelom Absent or rudimentary umbilical cord 34 Proposed common findings Absent/rudimentary/short umbilical cord 32,34,47,58 Limb anomalies Pseudosyndactyly without amniotic bands, oligodactyly, polydactyly, split hand and foot, single bone forelimb, forebone abnormalities, absent limb and limb girdle, absent muscles and arthrogryposis 7,63 Clubbed feet, single lower limb 34 Bilateral clubbed feet 32 Club foot, rocker bottom foot 47 Neural tube defects 46,58 Exencephaly or encephalocele 7,63 Abdominal wall defects Abdominoschisis 34,64 Omphalocele 32,39,47 Skeletal abnormalities Kyphoscoliosis 32,34 Scoliosis 46,47,64 Craniofacial abnormalities 28,34 Case reports Encephalocele, anophthalmia, bilateral cleft lip, thoracic cleft with ectopia cordis, omphalocele, short umbilical cord, single umbilical artery 39 Ectopia cordis 11…”

Section: Craniofacial Defects Often With Cranioplacental Adhesion Andmentioning

confidence: 99%

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Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum

Coleman

Marine

Weida

et al. 2018

AJP Rep

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Objective To ascertain if useful criteria for prenatal diagnosis of fetal ventral body wall defects (VBWDs) exists by reviewing published literature on diagnosis of VBWD as compared with our own diagnostic experience. Study Design A comprehensive literature review of diagnostic criteria of fetal VBWD including pentalogy of Cantrell (POC), omphalocele, exstrophy, imperforate anus, spina bifida (OEIS), cloacal exstrophy, limb–body wall complex (LBWC), and body stalk anomaly was performed followed by a retrospective review of all fetal magnetic resonance imaging (MRI) examinations from our medical center over a 2-year period. Results Classically, OEIS is omphalocele, bladder exstrophy, imperforate anus, and spina bifida. POC is defects of the supraumbilical abdomen, sternum, diaphragm, pericardium, and heart. LBWC is two of the following: exencephaly or enencephaly with facial clefts, thoracoschisis or abdominoschisis, and limb defects. Twenty-four cases of VBWD on MRI over a 24-month period were identified with seven cases involving defects of additional organ systems. Six of these seven cases demonstrated findings from two or more of the traditional diagnoses POC, OEIS, and LBWC making diagnosis and counseling difficult. Conclusion There is a lack of consensus on useful diagnostic criteria within the published literature which is reflected in our own diagnostic experience and poses a challenge for accurate prenatal counseling.

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Section: Discussionmentioning

confidence: 99%

Section: Craniofacial Defects Often With Cranioplacental Adhesion Andmentioning

confidence: 99%

Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum

Coleman

Marine

Weida

et al. 2018

AJP Rep

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“…The phenotype in the ABS classified cases was 11 abdominal, five cranial, three CR/AB overlapped phenotype, one CR/SPDYS, and two ABS cases did not show specific phenotype. All cases classified in this study as ABS were considered as LBWC in their original report (Gajzer et al, case 3;Kamudhamas & Manusook, 2001 case 1; Kruszka et al, 2015 cases: 1 and 2; Moerman et al, 1992 cases: 11-13;Sahinoglu et al, 2007 case 5;Vujovic et al, 2017), or as LBWD (Gazolla et al, 2014 cases 1 and 6), except for cases 1, 2, and 9 which were reported as ABS by Routhu et al (2016).Case 3 reported as LBWC by Gajzer, Hirzel, Saigal, Rojas, and Rodriguez (2015) showed gastroschisis, normal UC, spinal anomaly, and clubfoot, thus it was not classified as BSA or LBWC. Gastroschisis is a full-thickness abdominal wall occurring lateral to the UC, and, in most cases, is an isolated anomaly, but sometimes may occur in combination with other congenital anomalies as arthrogryposisin the hindlimbs (Martín-Alguacil & Avedillo, 2020b).…”

Section: Martín-alguacilmentioning

confidence: 99%

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

Martín‐Alguacil

2020

Molec Gen & Gen Med

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There is no consensus on the definition and classification of complex body wall anomalies (CBWA). Recently an anatomical and embryological criteria was used to classify body wall anomalies with multiple congenital anomalies in the pig (Martín-Alguacil & Avedillo, 2020a). Body stalk anomalies (BSA) were considered when there is a body wall anomaly, skeletal abnormalities, and the umbilical cord is anomalous, absent or rudimentary, and limb body wall complex (LBWC) when there is a body wall and structural limb anomalies with or without craniofacial abnormalities. The proposed

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“…Diagnosis of the full extent of the defect differs on a case-by-case basis, but usually involves chest radiography (CXR) or computed tomography (CT) scans [4]. Exploratory operations are often necessary as it is sometimes unclear whether there is an elevated hemidiaphragm or a diaphragmatic hernia [8,10].…”

Section: Introductionmentioning

confidence: 99%

Isolated Thoracoschisis with Rib Agenesis and Liver Herniation: A Case Report

et al. 2019

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Patient: Male, 30-day-oldFinal Diagnosis: ThoracoschisisSymptoms: Respiratory distressMedication: —Clinical Procedure: —Specialty: SurgeryObjective:Congenital defects/diseasesBackground:Thoracoschisis is a very rare congenital birth defect defined by the herniation of intra-abdominal organs through a defect in the thoracic wall. Though often associated with other birth defects as a part of the “limb-body wall complex” deformities, thoracoschisis has very rarely been reported as an isolated finding.Case Report:Here we present the case of a 30-day-old term male infant with an isolated left thoracoschisis managed successfully by primary closure. The patient was monitored postnatally in the Neonatal Intensive Care Unit (NICU) of Maputo Central Hospital because of the presence of a herniated mass through a left chest wall defect below the left nipple. Computed tomography (CT) scans suggested the presence of a left diaphragmatic hernia, left rib agenesis, and herniation of an unidentifiable intra-abdominal organ through the anterior left chest wall. On day of life (DOL) 30, when global health outreach pediatric surgeons arrived at the hospital, the decision was made to operate on the child. The mass was found to be of liver origin, the exposed tissue was excised, and primary closure of the chest wall was accomplished. The patient’s postoperative course involved a wound infection that resolved favorably with treatment, allowing for discharged home on postoperative day (POD) 17 in stable condition.Conclusions:Our case report highlights the importance of recognizing this rare condition and directing appropriate surgical care.

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Thoracoschisis associated with Limb Body Wall Complex

Cited by 8 publications

References 11 publications

Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum

Fetal MRI in the Identification of a Fetal Ventral Wall Defect Spectrum

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

Isolated Thoracoschisis with Rib Agenesis and Liver Herniation: A Case Report

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