[Respiratory impairment in a patient with acrodysostosis: A rare association of an uncommon pathology].

Autor:	Sierrasesúmaga Martín P; Servicio de Pediatría, Clínica San Miguel, Pamplona, España., Berrade Zubiri S; Endocrinología Infantil, Servicio de Pediatría, Complejo Hospitalario de Navarra, Pamplona, España., Chueca Guindulain MJ; Endocrinología Infantil, Servicio de Pediatría, Complejo Hospitalario de Navarra, Pamplona, España., Viguria N; Neumología Infantil, Servicio de Pediatría, Complejo Hospitalario de Navarra. IdisNa, Instituto de investigación sanitaria de Navarra, España., Moreno-Galarraga L; Neumología Infantil, Servicio de Pediatría, Complejo Hospitalario de Navarra. IdisNa, Instituto de investigación sanitaria de Navarra, España. laura.moreno.galarraga@cfnavarra.es.
Jazyk:	Spanish; Castilian
Zdroj:	Archivos argentinos de pediatria [Arch Argent Pediatr] 2021 Aug; Vol. 119 (4), pp. e340-e344.
DOI:	10.5546/aap.2021.e340
Abstrakt:	Acrodysostosis is a rare skeletal displasia, of autosomal dominant inheritance, characterized by the presence of facial and peripheral dysostosis, short stature and obesity. Type 1 acrodysostosis is secondary to a mutation in the PRKAR1A (17q24.2) gene, which results in multi hormonal resistance and skeletal anomalities. This syndrome is under-diagnosed as it shares analytical and clinical characteristics with other entities, such as pseudohypoparathyroidism. We report the case of an eight-year-old girl with genetically confirmed type 1 acrodysostosis. In addition to the characteristic phenotype described, the short stature and the hormonal resistance, the Afectación respiratoria en paciente con acrodisostosis: una asociación infrecuente de una enfermedad rara Respiratory impairment in a patient with acrodysostosis: A rare association of an uncommon pathology patient suffered a progressive lung function deterioration: an irreversible pulmonary obstructive pattern. We have not found in previous literature cases reporting an association between acrodysostosis and lung function impairement. Competing Interests: None (Sociedad Argentina de Pediatría.)
Databáze:	MEDLINE
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