Your browser doesn't support javascript.
loading
Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man.
Arvio, Maria; Lähdetie, Jaana.
Afiliação
  • Arvio M; Päijät-Häme Joint Municipal Authority, Neurology, Lahti, Finland.
  • Lähdetie J; PEDEGO, Oulu University Hospital, Finland.
Am J Med Genet A ; 185(7): 2164-2167, 2021 07.
Article em En | MEDLINE | ID: mdl-33942960
ABSTRACT
We have followed the clinical course of a 45-year-old man with a severe form of alpha-thalassemia X-linked intellectual disability syndrome for 40 years. The most challenging health issue is the combination of rumination, drooling, and vomiting. The patient achieved present adaptive and motor skills in his teenage years. He is able to move on the floor in a sitting position. He seems happy and has not shown any behavioral or psychiatric symptoms. New signs not described in the literature before are accelerated growth after puberty and atypical sleeping position with upper body resting on legs.
Assuntos
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Destreza Motora Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Predisposição Genética para Doença / Destreza Motora Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2021 Tipo de documento: Article