The first study of 3-M Syndrome in Jordan and Literature Review
Pharm. pract. (Granada, Internet)
; 22(1): 1-4, Ene-Mar, 2024. ilus
Article
in English
| IBECS
| ID: ibc-231370
Responsible library:
ES1.1
Localization: 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)
Full text:
Available
Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Pelvis
/
Spine
/
Consanguinity
/
Fetal Growth Retardation
/
Genetic Diseases, Inborn
Limits:
Humans
/
Infant
Country/Region as subject:
Asia
Language:
English
Journal:
Pharm. pract. (Granada, Internet)
Year:
2024
Document type:
Article
Institution/Affiliation country:
Applied Science Private University/Jordan
/
The University of Jordan/Jordan
/
Virginia Commonwealth University/USA