GAPO Syndrome – Diagnosis of a Rare Case Report and Review
Year: 2025
Type: article
Study design: Case Report
Abstract: GAPO syndrome is an unusual genetic disorder with an autosomal recessive trait inheritance. The syndrome is caused due a genetic defect or alterations in the ANTXR1/TEM8 gene. GAPO has major features such as growth retardation, sparse hair, pseudo anodontia, and optic atrophy. In this article, we are reporting a female child patient with syndromic features. Based on the patient’s history, clinical presentation, and radiographic features, we arrived at a provisional diagnosis of GAPO syndrome and advised genetic testing, which confirmed our diagnosis.
Institution: Tamil Nadu Government Dental College and Hospital
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4411715000