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WFM / MEJFM April 2024

Unravelling the Mystery of Arterial Tortuosity Syndrome: A Case Report of an Unexpected Rare Diagnosis in a Well-Baby Clinic at a Primary Care Center in Qatar

Maryam Mohamed AlDosari

Manager of Health Centre & Specialist Family Medicine Operations - HC Al Wakra (South) Qatar

Correspondence:
Dr. Maryam Mohamed AlDosari
Manager of Health Centre & Specialist Family Medicine
Operations - HC Al Wakra (South)
P.O. Box 26555 | Doha | Qatar
Qatar
Tel: 402-75701
Email: mmaldosari@phcc.gov.qa

Received: Febuary 2024. Accepted: March 2024; Published: April 1, 2024.Citation: Walaa Abdulmohsin. Unravelling the Mystery of Arterial Tortuosity Syndrome: A Case Report of an Unexpected Rare Diagnosis in a Well-Baby Clinic at a Primary Care Center in Qatar. World Family Medicine. April 2024; 22(4): 43-45. DOI: 10.5742/MEWFM.2024.95257637


Abstract


A case of Arterial Tortuosity Syndrome (ATS) is a rare autosomal recessive genetic disorder characterized by significant alterations in the structure and function of the arterial system. Mutations in the SLC2A10 gene, responsible for encoding the transporter protein GLUT10, lead to the development of ATS.

Keywords:
Arterial Tortuosity Syndrome, case report, well baby clinic, Qatar





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