The first study of 3-M Syndrome in Jordan and Literature Review

• Aseel Alkhawaldeh ^[1] ; Ahmad R. Alsayed ^[3] ; Rajaa Daghash ^[3] ; Jumana Albaramiki ^[1] ; Dana Shibli ^[4] ; Sara Abudahab ^[2] ; Nancy Hakooz ^[1]
  1. [1] University of Jordan

     University of Jordan

     Jordania

     
  2. [2] Virginia Commonwealth University

     Virginia Commonwealth University

     Estados Unidos

     
  3. [3] Department of Clinical Pharmacy and Therapeutics, Faculty of Pharmacy, Applied Science Private University, Amman 11937, Jordan.
  4. [4] Jordan University Hospital, The University of Jordan, Amman, Jordan.

  Mostrar afiliaciones +
• Localización: Pharmacy Practice (Granada), ISSN-e 1886-3655, Vol. 22, Nº. 1, 2024 (Ejemplar dedicado a: Jan-Mar)
• Idioma: inglés
• Enlaces
  • Texto completo (pdf)
• Resumen

  • 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.