| Autor: |
Morales OL; Departamento de Pediatría, Grupo de Investigación Pediaciencias, Universidad de Antioquia, Hospital San Vicente Fundación, Clínica Noel, Medellín, Colombia. olmmunera@yahoo.com., Díaz JM; Universidad Militar Nueva Granada, Bogotá, D.C., Colombia. dra.jerly.diaz@gmail.com., Montoya JH; Hospital San Vicente Fundación, Medellín, Colombia. jorge.montoya@sanvicentefundacion.com. |
| Jazyk: |
English; Spanish; Castilian |
| Zdroj: |
Biomedica : revista del Instituto Nacional de Salud [Biomedica] 2022 Dec 01; Vol. 42 (4), pp. 554-561. Date of Electronic Publication: 2022 Dec 01. |
| DOI: |
10.7705/biomedica.6524 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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