title: Novel association of VACTERL, neural tube defect and crossed renal ectopia: sonic hedgehog signaling: a point of coherence?
abstract: The present case report describes two patients with a novel combination of VACTERL (vertebral, anorectal, cardiac, tracheoesophageal, renal, limb), neural tube defect and crossed renal ectopia. Though cases of VACTERL associated with crossed renal ectopia have been described, the present case report is the first to describe its combination with neural tube defect. The cases reported here are significant because central nervous system manifestations are scarce in VACTERL syndrome. The role of sonic hedgehog pathway has been proposed in VACTERL association and neural tube defects. Axial Sonic hedgehog signaling has also been implicated in the mediolateral positioning of the renal parenchyma. With this knowledge, the etiopathogenesis of this novel combination is discussed to highlight the role of sonic hedgehog signaling as a point of coherence.
authors.affiliation: Department of Pediatric Surgery, Post Graduate Institute of Medical Education and Research, Chandigarh, India. dhananjayvaze@gmail.com
authors.forename: Dhananjay
authors.initials: D
authors.lastname: Vaze
authors.forename: Santosh
authors.initials: S
authors.lastname: Mahalik
authors.forename: Katragadda L N
authors.initials: KL
authors.lastname: Rao
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D001003:Anal Canal / Q000002:abnormalities / Q000378:metabolism; D004947:Esophagus / Q000002:abnormalities / Q000378:metabolism; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D053823:Hedgehog Proteins / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities / Q000378:metabolism; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D008297:Male; D009436:Neural Tube Defects / Q000175:diagnosis; D015398:Signal Transduction; D013131:Spine / Q000002:abnormalities / Q000378:metabolism; D014132:Trachea / Q000002:abnormalities / Q000378:metabolism
chemical_list: D053823:Hedgehog Proteins