B1 Journal article

Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man




List of Authors: Arvio Maria, Lähdetie Jaana

Publisher: WILEY

Publication year: 2021

Journal: American Journal of Medical Genetics Part A

Journal name in source: AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Journal acronym: AM J MED GENET A

Number of pages: 4

ISSN: 1552-4825

DOI: http://dx.doi.org/10.1002/ajmg.a.62213

URL: https://doi.org/10.1002/ajmg.a.62213


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.

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Last updated on 2021-24-06 at 08:16