Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families.
Clin Dysmorphol
; 33(1): 9-15, 2024 Jan 01.
Article
em En
| MEDLINE
| ID: mdl-38038060
ABSTRACT
This study reports on 14 individuals with Fragile X syndrome from 3 Congolese Families. The majority (8/14) were males, with an average age of 18.4 (±11.1 [14-38]) years old. Typical dysmorphic characteristics of Fragile-X syndrome including elongated face, large and prominent ears were found in both males and females with the full mutation. Macroorchidism was found in all post-pubertal boys. The cognitive ability in our cohort varies widely ranging from mild (IQ 50-70) to moderate (IQ 35-49) intellectual disability (Average IQ of 60). All our female patients have ID.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome do Cromossomo X Frágil
/
Deficiência Intelectual
Limite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
País/Região como assunto:
Africa
Idioma:
En
Revista:
Clin Dysmorphol
/
Clin. dysmorphol
/
Clinical dysmorphology
Assunto da revista:
TERATOLOGIA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Congo