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​Cihat Şen, ​Nicola Volpe

Cecilia Villalain, Daniel Rolnik, M. Mar Gil

Managing Editors
Murat Yayla

Statistics Editor
Resul Arısoy

PP-014 A rare anomaly, limb body wall complex

Elif Yavuz, Nazli Zeynep Cetinkaya

Article info

PP-014 A rare anomaly, limb body wall complex. Perinatal Journal 2024;32(2024):12 DOI: 10.59215/prn.24.032supp014

Author(s) Information

Elif Yavuz,
Nazli Zeynep Cetinkaya

  1. Sisli Hamidiye Etfal Research and Training Hospital, İstanbul, Türkiye

Nazli Zeynep Cetinkaya, Sisli Hamidiye Etfal Research and Training Hospital, İstanbul, Türkiye, [email protected]

Publication History

Publication date: May 18, 2024

Conflicts of Interest

No conflicts declared.

Limb Body Wall Complex (LBWC) also referred as body stalk, is a rare sporadic condition seen with multiple malformations, a wide spectrum of body wall anomalies. The incidence rates varies between 0.2 to 1.3 per 10.000 pregnancies and a ratio of 0.32 per 100.000 births. Birth ratios are decreased drastically due to malformations which show no compatibility with life. Malformations involve combination of craniofacial, thoracoabdominal wall, spinal and extremital structures. Findings have also shown short or absent umbilical cord and/or exteriorization of fetal heart and bladder additively. Typically used criteria for LBWC is outlined by Van Allen et al., suggesting that presence of two out of three of the following are diagnostical; -Exencephaly or encephalocele with facial defects, -thoraco and/or abdominochisis, -limb defects. We present a rare case of LBWC presenting with vertebral deformities, gastroschisis and exencephaly in a 27 years old nulliparous woman.
G1P0, 27 years old woman comes in for a routine first trimester screening test at 12 weeks and 6 days since her last menstrual date. She weights 69 kg, her vitals were stable, has no history of drug or alcohol use, no relativity with her partner and no chronic diseases. She was only using folic acid as a supplement. The obstetric ultrasonography showed an intrauterine singleton pregnancy which has positive fetal heart rhythm, intact plasenta and increased amniotic fluid quantity together with kyphoscoliosis, gastrochisis and excencephaly was seen in a Crown rump length(CRL) : 10+6, 39mm fetus.
Most likely diagnosis was LBWC. Termination was suggested to parents due to unexpected fetal compliance. Parents were also referred to medical genetics clinic. The selected termination method was misoprostol regimen. A total fetal and placental material was aborted which a gender discrimination could not be made and sent to genetical and pathological examination (Fig. 1-2). Genetic studies still continue for microarray and chromosomal analysis but as seen in other cases that are presented in the literature, results are expected to be normal. Material was also sent to pathological examination for necropsy for a gold standard diagnosis; which has been also shown in previous studies as normal but we are stil awaiting for the definitive result.
The aim of this study is to remind our colleagues the importance of intrauterin sonographic diagnosis which is a non invasive, cheap and fast way to detect the hallmarks of such anomalies at early stages of pregnancy. We acknowledge that LBWC is a rare and often missed diagnosis anomaly, but with this case report we like to effectuate you to rise the suspicion of LBWC when scoliosis, neural tube defects, thoraco-abdominochisis or abnormal fetal membranes are seen.

Limb body wall complex, body stalk

Figure 1
Photo of the aborted fetus affected with limb body wall complex presenting: exencephaly, gastroschisis, kyphoscoliosis.
Figure 2
Photo of the aborted fetus affected with limb body wall complex presenting: exencephaly, gastroschisis, kyphoscoliosis.