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  • Title: Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2.
    Author: Deconte D, Kreusch TC, Salvaro BP, Perin WF, Ferreira MAT, Kopacek C, da Rosa EB, Heringer JI, Ligabue-Braun R, Zen PRG, Rosa RFM, Fiegenbaum M.
    Journal: J Pediatr Genet; 2020 Dec; 9(4):263-269. PubMed ID: 32765931.
    Abstract:
    Kenny-Caffey syndrome (KCS) is a rare genetic condition characterized by growth retardation, bone abnormalities, and hypoparathyroidism. Herein, we report an unusual case of a 10-year-old girl with Kenny-Caffey syndrome type 2 (KCS2) presenting with vision impairment-suspected maculopathy and intellectual disability. Endocrine evaluation showed low calcium and high phosphorus plasma levels. Radiographic evaluation revealed short metacarpal bones and delayed bone age. Sequencing analysis showed a missense variant in FAM111A (R569H), unidentified in her parents. Better understanding of potential neurological and ophthalmological findings in KCS2 patients is important to improve quality of life of these patients as usually they exhibit long survival.
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