Mother and daughter with Kenny-Caffey syndrome: the adult phenotype

• DOI: 10.1016/j.ejmg.2024.104943
• Publication Date: 2024-04-27T01:13:18Z
• Authors: L. Tonelli; M. Sanchini; A. Margutti; B. Buldrini; A. Superti-Furga; A. Ferlini; R. Selvatici; S. Bigoni
• Keywords: Daughter; Hypoparathyroidism

Kenny-Caffey Syndrome (KCS) is a genetic syndrome characterized by growth retardation with short stature, cortical thickening and medullary stenosis of long bones, hypoparathyroidism hypocalcemia. KCS the related but more severe condition osteocraniostenosis are determined monoallelic variants in FAM111A gene. Here we describe phenotype resulting from variant p.Y511H 31-year-old woman her 56-year-old mother, who one oldest affected individuals known so far. To our knowledge, it also few molecularly confirmed cases mother-to-child transmission