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.
Subject(s)
Abdominal Wall/abnormalities , Abnormalities, Multiple/genetics , Body Patterning/genetics , Lower Extremity Deformities, Congenital/genetics , Thoracic Wall/abnormalities , Umbilical Cord/abnormalities , Abnormalities, Multiple/embryology , Abortion, Spontaneous , Adult , Cloaca/abnormalities , Diseases in Twins/genetics , Female , Fetal Death/etiology , Gallbladder/abnormalities , Hernia, Umbilical/embryology , Hernia, Umbilical/genetics , Heterotaxy Syndrome/genetics , Humans , Kyphosis/embryology , Kyphosis/genetics , Lower Extremity Deformities, Congenital/embryology , Male , Pregnancy , Retrospective Studies , Scoliosis/embryology , Scoliosis/genetics , Spine/abnormalitiesABSTRACT
A few cases of congenital scoliosis due to segmentation failure have so far reported and the antenatal detection of pure congenital kyphosis without scoliosis due to segmentation failure has not been reported. We report the first prenatal identification using ultrasound of a fetus affected with pure congenital kyphosis due to anterior segmentation failure of the vertebral body between the second and third lumbar spine which was associated with ventriculomegaly, cleft palate, and hydramnios.
Subject(s)
Kyphosis/diagnostic imaging , Ultrasonography, Prenatal , Adult , Cerebral Ventricles/pathology , Cleft Palate/complications , Female , Humans , Kyphosis/complications , Kyphosis/congenital , Kyphosis/embryology , Polyhydramnios/complications , Pregnancy , Spine/embryologySubject(s)
Abnormalities, Multiple/pathology , Heart Defects, Congenital/pathology , Vena Cava, Superior/abnormalities , Abnormalities, Multiple/embryology , Adult , Cleft Lip/embryology , Female , Heart Atria/abnormalities , Heart Defects, Congenital/embryology , Humans , Kyphosis/embryology , Scoliosis/embryology , Vena Cava, Superior/embryologyABSTRACT
Sixteen cases of type II congenital kyphosis were reviewed. As a working hypothesis, we assumed that this pathology should have a behavior similar to scoliosis due to a segmentation defect, if a true unsegmented bar existed. The analysis of different parameters including the number of levels involved, the patient's age, the degree of disc space involvement, and the site of deformity did not confirm this hypothesis. Furthermore, an experimental animal study failed to reproduce this congenital anomaly. It is our belief that kyphosis resulting from a "segmentation defect" represents a developmental defect of the perivertebral structures including the annulus fibrosus, the ring apophysis, and the anterior longitudinal ligament rather than a true intervertebral bar.
