Millan S. Patel, Glenn P. Taylor, Simi Bharya, Nouriya Al-Sanna’a, Ian Adatia, David Chitayat, M.E. Suzanne Lewis, Derek G. Human
Hospital for Sick Children and University of Toronto. Children’s and Women’s Health Center of British Columbia and University of British Columbia.
Canada
American Journal of Medical Genetics
Am J Med Genet 2004; 129A: 294-299
DOI: 10.1002/ajmg.a.30221
Abstract
Adams-Oliver syndrome (AOS) consists of congenital scalp defects with variable limb defects of unknown pathogenesis. We report on two children with AOS plus additional features including intrauterine growth retardation (IUGR), cutis marmorata telangiectatica congenita (CMTC), pulmonary hypertension (PH), intracranial densities shown in one case to be sites of active bleeding and osteopenia. Autopsy in one case revealed defective vascular smooth muscle cell/pericyte coverage of the vasculature associated with two blood vessel abnormalities. Pericyte absence correlated with vessel dilatation while hyperproliferation of pericytes correlated with vessel stenosis. These findings suggest a unifying pathogenic mechanism for the abnormalities seen in AOS. These and previously reported cases establish that a subset of AOS patients is at high risk for PH.
Category
Stenosis or Obstruction of Normal Pulmonary Venous Connections
Genetic Factors Influencing the Onset, Severity or Outcome of Disease
Pulmonary Venous Pathology
Year of Publication: 2004
Age Focus: Pediatric
Article Type: Case Reports or Retrospective Observations in Small Groups of Patients (≤10 patients)
Article Access: Free PDF File or Full Text Article Available Through PubMed or DOI: No