The first study of 3-M Syndrome in Jordan and Literature Review
Pharm. pract. (Granada, Internet)
; 22(1): 1-4, Ene-Mar, 2024. ilus
Artigo
em Inglês
| IBECS
| ID: ibc-231370
Biblioteca responsável:
ES1.1
Localização: ES15.1 - BNCS
ABSTRACT
The prevalence of 3-M syndrome remains unclear owing to its rarity and the limited number of reported cases in the medical literature. To date, approximately 100 cases of the disorder have been documented in MedlinePlus Genetics. Here, we present the first case study report from Jordan of a boy diagnosed with 3-M syndrome at 9 months of age via karyotyping. The patient exhibited distinct facial features, severe prenatal and postnatal growth retardation, and normal mental development. As rare genetic autosomal recessive mutations are common where consanguineous marriages are prevalent, raising awareness of such rare genetic diseases is critical. This paper aims to provide a case report on 3-M syndrome and a literature review. (AU)
Texto completo:
Disponível
Coleções:
Bases de dados nacionais
/
Espanha
Base de dados:
IBECS
Assunto principal:
Pelve
/
Coluna Vertebral
/
Consanguinidade
/
Retardo do Crescimento Fetal
/
Doenças Genéticas Inatas
Limite:
Humanos
/
Lactente
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Pharm. pract. (Granada, Internet)
Ano de publicação:
2024
Tipo de documento:
Artigo
Instituição/País de afiliação:
Applied Science Private University/Jordan
/
The University of Jordan/Jordan
/
Virginia Commonwealth University/USA