Kenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization.

ABSTRACT: Background/Objectives: Kenny-Caffey syndrome 2 (KCS2) is a rare cause of hypoparathyroidism, inherited in an autosomal dominant mode, resulting from pathogenic variants of the FAM111A gene, which is implicated in intracellular pathways regulating parathormone (PTH) synthesis and skeletal and parathyroid gland development. Methods: The case of a boy is reported, presenting with the characteristic and newly identified clinical, biochemical, radiological, and genetic abnormalities of KCS2. Results: The proband had noticeable dysmorphic features, and the closure of the anterior fontanel was delayed until the age of 4 years. Biochemical evaluation at several ages revealed persistent hypocalcemia, high normal phosphorous, and inappropriately low normal PTH. To exclude

SUBMITTER: Hatziagapiou K 

PROVIDER: S-EPMC11721953 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature