title: Possible Genetic Origin of Limb-Body Wall Complex.
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.
authors.affiliation: Department of Pathology, University of Miami, Holtz Children's Hospital , Miami, Florida , USA.
authors.forename: David C
authors.initials: DC
authors.lastname: Gajzer
authors.forename: Alicia Cristina
authors.initials: AC
authors.lastname: Hirzel
authors.forename: Gaurav
authors.initials: G
authors.lastname: Saigal
authors.forename: Claudia Patricia
authors.initials: CP
authors.lastname: Rojas
authors.forename: Maria Matilde
authors.initials: MM
authors.lastname: Rodriguez
mesh_terms: D034861:Abdominal Wall / Q000002:abnormalities*; D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics*; D000022:Abortion, Spontaneous; D000328:Adult; D019521:Body Patterning / Q000235:genetics*; D002988:Cloaca / Q000002:abnormalities; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D005313:Fetal Death / Q000209:etiology; D005704:Gallbladder / Q000002:abnormalities; D006554:Hernia, Umbilical / Q000196:embryology / Q000235:genetics; D059446:Heterotaxy Syndrome / Q000235:genetics; D006801:Humans; D007738:Kyphosis / Q000196:embryology / Q000235:genetics; D038061:Lower Extremity Deformities, Congenital / Q000196:embryology / Q000235:genetics*; D008297:Male; D011247:Pregnancy; D012189:Retrospective Studies; D012600:Scoliosis / Q000196:embryology / Q000235:genetics; D013131:Spine / Q000002:abnormalities; D035441:Thoracic Wall / Q000002:abnormalities*; D014470:Umbilical Cord / Q000002:abnormalities*
keywords: absent gallbladder; body stalk anomaly; genes; limb body wall complex (lbwc); polysplenia; short umbilical cord