Open AccessOphthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2
Author(s) -
Desirée Deconte,
Tulia Cristina Kreusch,
Bruna Pavan Salvaro,
Wagner Fernando Perin,
Maria Angélica Tosi Ferreira,
Cristiane Kopacek,
Ernani Bohrer da Rosa,
Jane Iândora Heringer,
Rodrigo Ligabue-Braun,
Paulo Ricardo Gazzola Zen,
Rafael Fabiano Machado Rosa,
Marilu Fiegenbaum
Publication year - 2020
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0039-3401831
Subject(s) - hypoparathyroidism , girl , missense mutation , intellectual disability , medicine , pediatrics , psychiatry , genetics , mutation , biology , gene
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.