Prenatal sonographic diagnosis of limb-body wall complex: case series of a rare congenital anomaly

Bhat, Abdul Rashid; Ilyas, Mohd; Dev, Ghanshyam

doi:10.1016/j.radcr.2016.02.004

Cited by 10 publications

(11 citation statements)

References 7 publications

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“…Limb body wall complex is a very rare fatal foetal congenital disorder, usually resulting in intrauterine death of the foetus, or in cases of liveborn the demise comes shortly after delivery. Reported cases so far show no predilection as to sex of the foetus or the age of parents [19], although in our material seven cases were male, with two not given, and one diagnosed with hermaphroditism. It occurs sporadically, with the normal karyotype of the foetus (in most cases), and the incidence is quoted as 1 : 10,000 to 1 : 42,000 depending on the authors [16,17].…”

Section: Discussioncontrasting

confidence: 67%

Limb body wall complex – the history of the entity and presentation of our series of cases

Gulczyński

Świątkowska-Freund

Paluchowski

et al. 2019

pjp

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We present an analysis of two first historically documented limb body wall complex (LBWC) cases and our own contemporary perinatal autopsy series of this rare complex. So far it was supposed that the first case of this complex was reported in 1685 by Paul Portal. Studying the Joachim Oelhaf's autopsy report from 1613 with attached engraving showing the neonate with multiple birth defects led our research team to a conclusion that it was genuinely the first description of LBWC in the medical literature so far. We compared the Oelhaf's case from 1613 and the Portal's autopsy report from 1685 with our series of LBWC cases dissected in the Medical University of Gdansk between 1999 and 2011. Reviewing 1100 autopsy reports performed we encountered 9 cases of this unique complex. The analysis was supported by the literature review.

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Section: Discussioncontrasting

confidence: 67%

Limb body wall complex – the history of the entity and presentation of our series of cases

Gulczyński

Świątkowska-Freund

Paluchowski

et al. 2019

pjp

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“…10,11 There is no consensus about the etiology of LBWC even though the majority of cases of LBWC are sporadic, some women may have an underlying genetic predisposition. 12,13 We sent chromosomal analysis from fetus. Result was normal 46-XY karyotype.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Sonographic Diagnosis of Limb-BodyWall Complex: One Case of a Rare Congenital Anomaly

Yener¹,

Varol²,

Uzun³

et al. 2019

Turkiye Klinikleri J Case Rep

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The sonographic hallmarks of LBWC are neural-tube abnormalities, severe scoliosis, positional deformities, and abnormalities of fetal membranes. 1 Generally, the diagnosis is based on any 2 of the 3 previously mentioned features. Two adhesion phenotypes have been described, the "placentocranial" and "placentoabdominal." LBWC is also known as "body stalk syndrome." There is no treatment for LBWC. Lethal condition either in utero in early neonatal period. Body stalk anomaly is an accepted fatal anomaly. 2 Therefore its early diagnosis helps in proper management of the patient. LBWC should be diagnosed antenatally and terminated. CASE REPORT A 30 year old G2P1 female was referred to our hospital. The ultrasonography revealed male fetus with gestational age of 18 weeks using biparietal diameter (BPD). However it revealed a large abdominal wall defect with intestinal coils and liver seen herniating into the amniotic cavity. Spinal dysraphism was also seen in this fetus. Multiple amniotic bands were present (Figure 1). Ectopia cordis was detected. Color Doppler study was performed Prenatal Sonographic Diagnosis of Limb-Body Wall Complex: One Case of a Rare Congenital Anomaly A AB BS S T TR RA AC CT T Limb Body Wall Complex is also known as the body-stalk syndrome. It is a rarely seen clinical entity. In this case report we represent a 30 year old woman with 18 weeks of pregnancy associated with rare congenital anomaly "limb-body wall complex" also known as "body stalk syndrome" with prenatal ultrasonographic diagnostic features and immediate after delivery evaluation.

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“…29 Although not clear in the literature as to when, at some point many authors began to assert that LBWC was equivalent with BSA. [30][31][32][33] Other sources state that these are distinct entities on the same spectrum, and some have presented criteria on how to differentiate the two. Namely, BSA will not have extremity defects.…”

Section: Discussionmentioning

confidence: 99%

“…35 This nomenclature has been invoked as a valid method to classify LBWC defects by multiple subsequent authors. US is frequently cited as an effective prenatal diagnostic modality for this condition, 28,30,[32][33][34] and Sahinoglu et al put forth sonographic criteria for three phenotypes of LBWC based on a case series of six. 36 Recently, Aguirre-Pascual et al noted fetal MRI to be useful as an adjunct diagnostic modality to US in the prenatal characterization of LBWC.…”

Section: Discussionmentioning

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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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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Prenatal sonographic diagnosis of limb-body wall complex: case series of a rare congenital anomaly

Abstract: Three case reports of a rare congenital anomaly “limb-body wall complex” also known as “body stalk syndrome” are presented with prenatal ultrasonographic diagnostic features, immediate after delivery evaluation, and histopathologic analysis.

Cited by 10 publications

References 7 publications

Limb body wall complex – the history of the entity and presentation of our series of cases

Limb body wall complex – the history of the entity and presentation of our series of cases

Prenatal Sonographic Diagnosis of Limb-BodyWall Complex: One Case of a Rare Congenital Anomaly

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

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