Possible Genetic Origin of Limb-Body Wall Complex

David C. Gajzer, Alicia Cristina Hirzel, Gaurav Saigal, Claudia Patricia Rojas, Maria Rodriguez

Research output: Contribution to journalArticle

5 Scopus citations

Abstract

Limb body wall complex (LBWC) is characterized by multiple severe congenital malformations including an abdominal and/or thoracic wall defect covered by amnion, a short or absent umbilical cord with the placenta almost attached to the anterior fetal wall, intestinal malrotation, scoliosis, and lower extremity anomalies. There is no consensus about the etiology of LBWC and many cases with abnormal facial cleft do not meet the requirements for the true complex. We describe a series of four patients with LBWC and other malformations in an attempt to explain their etiology. There are several reports of fetuses with LBWC and absent gallbladder and one of our patients also had polysplenia. Absent gallbladder and polysplenia are associated with laterality genes including HOX, bFGF, transforming growth factor beta/activins/BMP4, WNT 1-8, and SHH. We postulate that this severe malformation may be due to abnormal genes involved in laterality and caudal development.

Original languageEnglish (US)
Pages (from-to)257-270
Number of pages14
JournalFetal and Pediatric Pathology
Volume34
Issue number4
DOIs
StatePublished - Aug 1 2015

Keywords

  • absent gallbladder
  • body stalk anomaly
  • genes
  • limb body wall complex (lbwc)
  • polysplenia
  • short umbilical cord

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Possible Genetic Origin of Limb-Body Wall Complex'. Together they form a unique fingerprint.

  • Cite this