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Biomédica
versão impressa ISSN 0120-4157versão On-line ISSN 2590-7379
Resumo
MORALES, Olga Lucía; DIAZ, Jerly Maybelline e MONTOYA, Jorge Hernán. Adams-Oliver syndrome and associated complications: Report of a family in Colombia and review of the literature. Biomed. [online]. 2022, vol.42, n.4, pp.554-561. Epub 01-Dez-2022. ISSN 0120-4157. https://doi.org/10.7705/biomedica.6524.
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.
Palavras-chave : Adams-Oliver syndrome; ectodermal dysplasia; limb deformities, congenital; inheritance pattern.