TY - JOUR
T1 - Possible Genetic Origin of Limb-Body Wall Complex
AU - Gajzer, David C.
AU - Hirzel, Alicia Cristina
AU - Saigal, Gaurav
AU - Rojas, Claudia Patricia
AU - Rodriguez, Maria Matilde
N1 - Publisher Copyright:
© 2015 Informa Healthcare USA, Inc.
PY - 2015/8/1
Y1 - 2015/8/1
N2 - 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.
AB - 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.
KW - absent gallbladder
KW - body stalk anomaly
KW - genes
KW - limb body wall complex (lbwc)
KW - polysplenia
KW - short umbilical cord
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U2 - 10.3109/15513815.2015.1055021
DO - 10.3109/15513815.2015.1055021
M3 - Article
C2 - 26111189
AN - SCOPUS:84938389884
VL - 34
SP - 257
EP - 270
JO - Pediatric Pathology and Molecular Medicine
JF - Pediatric Pathology and Molecular Medicine
SN - 1551-3815
IS - 4
ER -