title: Sirenomelia: case reports and current concepts of pathogenesis.
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.
authors: Department of Anatomy, Amrita Institute of Medical Sciences and Research Center, Ponekkara, Kerala, India.
authors: Minnie
authors: M
authors: Pillay
authors: Dhanya
authors: D
authors: Yesodharan
authors: Dhanya Lakshmi
authors: DL
authors: Narayanan
authors: Annie
authors: A
authors: Jojo
authors: Newton
authors: N
authors: Luiz
authors: Sheela
authors: S
authors: Nampoothiri
mesh_terms: D004480:Ectromelia / Q000209:etiology* / Q000473:pathology*; D005260:Female; D006801:Humans; D011247:Pregnancy; D014469:Umbilical Arteries / Q000002:abnormalities*