ProgramsView all programs
From the news
- Chancellor Amma Addresses the Parliament of World’s Religions
- Amrita Students Qualify for the European Mars Rover Challenge
Publication Type : Journal Article
Thematic Areas : Medical Sciences
Publisher : Pediatric and Developmental Pathology
Source : Pediatric and Developmental Pathology, Volume 15, Number 5, p.403-406 (2016)
Keywords : article, autopsy, bone disease, case report, coccygeal bone, Ectromelia, female, fetus, genital system, germ cell, hand malformation, human, Humans, index finger, intrauterine growth retardation, kidney agenesis, ossification, ovary follicle, pathogenesis, Pregnancy, prenatal diagnosis, priority journal, renal artery, rib, sirenomelia, thumb, Umbilical Arteries, vertebra body
Campus : Kochi
School : School of Medicine
Department : Paediatrics, Pathology, Anatomy
Year : 2016
Abstract : We present 2 cases of sirenomelia and highlight the recent theories about its pathogenesis. Both cases had a large aberrant abdominal umbilical artery (AAUA) arising from the aorta, suggesting vascular steal as the pathophysiology. However, the bilateral upper limb defects noted in 1 case, the reported 10% association of holoprosencephaly and anencephaly, and the reports of sirenomelia with normal umbilical arteries point to the alternative caudal dysgenesis (CD) theory. This proposes that an insult at the early blastogenic stage interferes with the formation of the notochord, resulting in abnormal development of caudal structures, an AAUA, and occasional neural tube defects. We have also analyzed the implications of the similarities between sirenomelia/CD and the VATER association; the increased risk of CD but not sirenomelia in infants of diabetic mothers; the fact that sirenomelia, holoprosencephaly, and the VATER association are all more common in monozygotic twins; the experimental production of sirenomelia in mice; and the possible genetic implications of the co-occurrence of sirenomelia and CD. © 2012 Society for Pediatric Pathology.
Cite this Research Publication : Ma Pillay, Yesodharan, Db, Narayanan, D. Lb, Jojo, Ac, Luiz, Nd, and Nampoothiri, Se, “Sirenomelia: Case reports and current concepts of pathogenesis”, Pediatric and Developmental Pathology, vol. 15, pp. 403-406, 2016.