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CASE REPORT Table of Contents   
Year : 2008  |  Volume : 51  |  Issue : 2  |  Page : 255-256
Limb body wall complex


Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow - 226 014, UP, India

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   Abstract 

Limb body wall complex (LBWC) is a rare clinicopathological entity, representing a compound anomaly pattern in ventral body wall defects. The authors report a case of LBWC diagnosed in early antenatal period. The pregnancy was terminated following the diagnosis. Fetal autopsy findings were typical of LBWC.

Keywords: Body wall complex, body wall defects, limb body wall complex

How to cite this article:
Prasun P, Behera BK, Pradhan M. Limb body wall complex. Indian J Pathol Microbiol 2008;51:255-6

How to cite this URL:
Prasun P, Behera BK, Pradhan M. Limb body wall complex. Indian J Pathol Microbiol [serial online] 2008 [cited 2019 Oct 18];51:255-6. Available from: http://www.ijpmonline.org/text.asp?2008/51/2/255/41674



   Introduction Top


Limb body wall complex (LBWC) is an entity characterized by the presence of an abdominal wall defect associated with variable spectrum of limb and visceral anomalies. The diagnosis of this entity is based on two of the three following characteristics: (1) exencephaly/encephalocele and facial clefts; (2) thoraco - and/or abdominoschisis; and (3) limb defects. [1]

Limb body wall malformations result from defect in early embryonic folding process. The chance of recurrence in next pregnancy is very low. But, the association of other malformations along with body wall defect makes the prognosis very poor.

To the best of our knowledge, this is the first case report from an Indian center where diagnosis of LBWC was made in the antenatal period, which was followed by planned termination of pregnancy and confirmation of the diagnosis on fetal autopsy. So far, only one case of LBWC in a stillborn fetus has been reported from India. [2]


   Case History Top


A 23-year-old, G2P0010 was referred to our department at 18 weeks of gestation for fetal ultrasonography, as fetal malformation was suspected during routine antenatal ultrasound by the caring obstetrician. Her previous pregnancy ended in a spontaneous abortion in the first trimester.

Ultrasound done at our institute revealed a large median defect in the anterior abdominal wall. The liver, stomach and intestine were outside the abdomen. The umbilical cord was short and inserted at the base of sac-like protrusion. There was scoliosis and right club foot. Limb body wall complex was suspected and after genetic counseling, the pregnancy was terminated.

A fetus was delivered weighting 250 g (50 th centile) with crown rump length of 14 cm (50 th centile). Fetal autopsy was performed. There was a large defect in anterior abdominal wall with evisceration of liver, stomach and intestine through it. Umbilical cord had three vessels. It was 6 cm in length (normal range: 21.5-23.7 cm) and attached to the caudal margin of the defect [Figure 1]. There was no discernable external genitalia. Anal atresia was present. The lower limbs were hypoplastic and had flexion contracture deformities. Right-sided club foot and rocker bottom anomaly of left foot were noted.

On internal examination, lungs appeared hypoplastic. Heart was normal. Both kidneys were normal. However, there was no urinary bladder. The ureters and intestine ended in cloaca. Intraabdominal testes were noted.

Postmortem chromosomal analysis was normal (46, XY).


   Discussion Top


Congenital malformations of the ventral abdominal wall occur in many forms, ranging from exomphalos to gastroschisis to more complex malformations, such as pentalogy of Cantrell and LBWC.

Gastroschisis is a small full-thickness defect of the anterior abdominal wall, usually just to the right of umbilicus. It is thought to result from local abdominal wall ischemia early in development. Defects in other system are rare and there are usually no dysmorphic features.

An exomphalos is hernia at the base of umbilical cord. The defect results from failure of midgut to return from extraembryonic coelom to the abdomen. Umbilical cord is attached at the apex of the herniated sac. Major defects in other system, particularly cardiac defects and chromosomal abnormalities, frequently accompany exomphalos. Exomphalos is frequently seen in trisomies 13, 18 and 21.

Limb body wall complex is an entity characterized by the presence of an abdominal wall defect associated with variable spectrum of limb and visceral anomalies. The diagnosis of this entity is based on two of the three following characteristics: (1) exencephaly/encephalocele and facial clefts; (2) thoraco - and/or abdominoschisis; and (3) limb defects.

Two main phenotypes have been described in the literature. [3]

  1. Fetuses with craniofacial defects - they show two specific characteristics; (a) encephalocele or exencephaly always associated with facial clefts and (b) amniotic bands and/or broad amniotic adhesion between the cranial defect and placenta.
  2. Fetuses without craniofacial defects - they often present with urogenital anomalies, anal atresia, lumbosacral meningocele and placental anomalies characterized by the presence of short cord, persistence of extra embryonic coelom and intact amnion.


Our case has the characteristics of the latter phenotype.

Different pathogenetic mechanisms have been suggested for these phenotypes. [3],[4] Early amnion rupture and vascular disruption with formation of amniotic band and entrapment of fetal parts in those bands, is supposed to be the underlying pathogenetic mechanism for craniofacial phenotype. The other phenotype is thought to arise from early embryonic dysplasia. There is abnormal embryonic folding related to malfunction of body wall ectodermal placode. [5] This leads to defective closure of embryonic abdominal wall associated with abnormal development of umbilical cord and persistence of extra embryonic coelom communicating with the abdominal cavity.

The internal malformations of the urinary and genital systems are usually associated with LBWC. They suggest abnormal mesodermal development. The placodes which are related to abnormal embryonic folding also add cells to the intermediate mesoderm in the trilaminar embryonic disc. The cells from this intermediate mesoderm contribute to the development of urogenital system. Thus, abnormality of the placodes may lead to maldevelopment of these systems. [5]

The prognosis of LBWC is very poor compared to isolated exomphalos or gastroschisis. Pregnancy should be terminated on establishing correct diagnosis, which requires careful ultrasound of the fetus whenever ventral abdominal wall defect is suspected.

The diagnosis of exomphalos should lead to search for other associated defects and chromosomal analysis should be considered. Isolated gastroschisis is the most benign of all.

Thus, it is important to distinguish between these entities, as it will influence the choice of treatment and survival.

 
   References Top

1.Pumberger W, Schaller A, Bernaschek G. Limb body wall complex: A compound anomaly pattern in body-wall defects. Pediatr Surg Int 2001;17:486-90.  Back to cited text no. 1  [PUBMED]  [FULLTEXT]
2.Managoli S, Chaturvedi P, Vilhekar KY, Gagane N. Limb body wall complex. Indian pediatr 2003;40:891-4.  Back to cited text no. 2  [PUBMED]  [FULLTEXT]
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;47:893-900.  Back to cited text no. 3  [PUBMED]  
4.Van allen MI, Curry C, Gallagher L. Limb body wall complex: 1, Pathogenesis. Am J Med Genet 1987;28:529-48.  Back to cited text no. 4  [PUBMED]  
5.Hartwig NG, Vermeij-Keers C, De Vries HE, Kagie M, Kragt H. Limb body wall malformation complex: An embryonic etiology? Hum Pathol 1989;20:1071-7.  Back to cited text no. 5  [PUBMED]  

Top
Correspondence Address:
Mandakini Pradhan
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, UP - 226 014
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.41674

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    Figures

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    Abstract
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    References
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