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Adams-Oliver syndrome and associated complications: Report of a family in Colombia and review of the literature

Olga Lucía MoralesJerly Maybelline DíazJorge Hernán Montoya
Published in: Biomedica : revista del Instituto Nacional de Salud (2022)
The Adams-Oliver syndrome is a rare congenital disorder characterized by aplasia cutis congenita of the scalp, terminal transverse limb defects, and congenital telangiectatic cutis marmorata. It can occur through different inheritance patterns: autosomal dominant, autosomal recessive, or de novo dominant mutations. Although the Adams-Oliver syndrome is a rare disease, it is essential to know its clinical characteristics and inheritance patterns, to establish a correct diagnosis and its possible complications during follow-up. In the present study, we describe the case of an adolescent with Adams-Oliver syndrome with an autosomal dominant inheritance pattern, pulmonary hypertension and plastic bronchitis, and several compromised family members.
Keyphrases
  • pulmonary hypertension
  • case report
  • mitochondrial dna
  • young adults
  • risk factors
  • mental health
  • gene expression
  • pulmonary artery
  • pulmonary arterial hypertension
  • coronary artery
  • autism spectrum disorder