Article
Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report.
American journal of medical genetics. Part A - 1 Dec 2020
Cavole Thiago Rodrigues, Perrone Eduardo, de Faria Soares Maria de Fatima, Dias da Silva Magnus Régios, Maeda Sergio Setsuo, Lazaretti-Castro Marise, Alvarez Perez Ana Beatriz
Abstract excerpt
Kenny-Caffey syndrome (KCS) is a rare hereditary skeletal disorder involving hypoparathyroidism. The autosomal dominant form (KCS2), caused by heterozygous pathogenic variants in the FAM111A gene, is distinguished from the autosomal recessive form (KCS1) and Sanjad-Sakati syndrome (SSS), both caused by pathogenic variants in the tubulin folding cofactor E (TBCE) gene, by the absence of microcephaly and...
Topics
- Abnormalities, Multiple
- Adolescent
- Dwarfism
- Growth Disorders
- Humans
- Hyperostosis, Cortical, Congenital
- Hypocalcemia
- Hypoparathyroidism
- Intellectual Disability
- Male