Novel association of VACTERL, neural tube defect and crossed renal ectopia – Sonic hedgehog signaling: A point of coherence?

• Published in: Congenital anomalies Vol. 52; no. 4; pp. 211 - 215
• Main Authors: Vaze, Dhananjay, Mahalik, Santosh, Rao, Katragadda L. N.
• Format: Journal Article
• Language: English; Japanese
• Published: Melbourne, Australia Blackwell Publishing Asia 01.12.2012; Wiley Subscription Services, Inc
• Subjects: Abnormalities, Multiple - diagnosis; Anal Canal - abnormalities; Anal Canal - metabolism; crossed renal ectopia; Defects; Esophagus - abnormalities; Esophagus - metabolism; Heart Defects, Congenital - diagnosis; Heart Defects, Congenital - genetics; Heart Defects, Congenital - metabolism; Hedgehog Proteins - metabolism; Humans; Infant, Newborn; Kidney - abnormalities; Kidney - metabolism; Limb Deformities, Congenital - diagnosis; Limb Deformities, Congenital - genetics; Limb Deformities, Congenital - metabolism; Magnetic Resonance Imaging; Male; neural tube defect; Neural Tube Defects - diagnosis; Pregnancy; Signal Transduction; sonic hedgehog; Spine - abnormalities; Spine - metabolism; Trachea - abnormalities; Trachea - metabolism; VACTERL; Vitamin B
• ISSN: 0914-3505; 1741-4520
• DOI: 10.1111/j.1741-4520.2011.00354.x

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.