Abstract

MORALES, Olga Lucía; DIAZ, Jerly Maybelline  and  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 Dec 01, 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.

Keywords : Adams-Oliver syndrome; ectodermal dysplasia; limb deformities, congenital; inheritance pattern.

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