Article
Clinical report of 8 patients with 49,XXXXY syndrome: Delineation of the facial gestalt and depiction of the clinical spectrum.
European journal of medical genetics - 1 Mar 2019
Burgemeister Anna L, Daumiller Eva, du Bois Gabriele, Graul-Neumann Luitgard M, Köhler Birgit, Knecht Susanne, Burgemeister Stefan, Gronwald Sarah, Maurer Martin H, Zirn Birgit
Abstract excerpt
49,XXXXY syndrome is a rare sex chromosome aneuploidy syndrome. Cognitive impairment with expressive language deficits in combination with developmental and speech dyspraxia are cardinal symptoms. Testicular insufficiency becomes apparent during adolescence. Neurological, musculoskeletal, genital, orthodontic and immunological anomalies are common and a higher incidence of congenital malformations has been...
Topics
- Adolescent
- Child
- Child, Preschool
- Humans
- Klinefelter Syndrome
- Male
- Phenotype
- Young Adult