Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man.
Am J Med Genet A
; 185(7): 2164-2167, 2021 07.
Article
en 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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Predisposición Genética a la Enfermedad
/
Destreza Motora
Límite:
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Finlandia