Kenny-Caffey Syndrome (KCS) is an extremely rare osteosclerotic bone dysplasia associated with hypocalcemia and ocular abnormalities. Although the condition is well reported in the medical literature, dental manifestations have not been discussed in great detail. The purpose of this report is to present specific oral features and prosthetic management in a KCS patient. Overlay dentures were utilized in the management of low vertical dimension of occlusion, congenital absence of several permanent teeth, and problems associated with function and esthetics. Results of the 4-year follow-up overlay denture therapy are presented.
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Kenny-Caffey Syndrome Type 2 (KCS2): A New Case Report and Patient Follow-Up Optimization.
J Clin Med
December 2024
Division of Endocrinology, Diabetes and Metabolism, ENDO-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, 11527 Athens, Greece.
Kenny-Caffey syndrome 2 (KCS2) is a rare cause of hypoparathyroidism, inherited in an autosomal dominant mode, resulting from pathogenic variants of the gene, which is implicated in intracellular pathways regulating parathormone (PTH) synthesis and skeletal and parathyroid gland development. : The case of a boy is reported, presenting with the characteristic and newly identified clinical, biochemical, radiological, and genetic abnormalities of KCS2. : The proband had noticeable dysmorphic features, and the closure of the anterior fontanel was delayed until the age of 4 years.
View Article and Find Full Text PDFOut-of-frame translation rescues a loss-of-function variant in a novel TBCE phenotype.
J Clin Endocrinol Metab
December 2024
Research Centre for Medical Genetics, Moscow, Russian Federation.
Context: Pathogenic variants in the TBCE gene, encoding tubulin-specific chaperone E crucial for tubulin folding, are linked to three severe neurodevelopmental disorders: Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome, Kenny-Caffey syndrome type 1, and progressive encephalopathy with amyotrophy and optic atrophy.
Objective: We identified patients with a novel, milder TBCE-associated phenotype and aimed to characterize it at the clinical and molecular levels.
Materials And Methods: We conducted splicing analysis using deep NGS sequencing of RT-PCR products and detected TBCE through Western blotting.
Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.
J Hum Genet
November 2024
Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
FAM111A (family with sequence similarity 111 member A) is a serine protease and removes covalent DNA-protein cross-links during DNA replication. Heterozygous gain-of-function variants in FAM111A cause skeletal dysplasias, such as the perinatal lethal osteocraniostenosis and the milder Kenny-Caffey syndrome (KCS). We report two siblings born to consanguineous parents with dysmorphic craniofacial features, postnatal growth retardation, ophthalmologic manifestations, hair and nail anomalies, and skeletal abnormalities such as thickened cortex and stenosis of the medullary cavity of the long bones suggestive of KCS.
View Article and Find Full Text PDFCochlear implantation in a familial rare syndromic ossification-related deafness and literature review.
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Department of Otorhinolaryngology and Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, P. R. China.
Background: Kenny-Caffey Syndrome type 2 (KCS2) is a genetic disease affecting bone metabolism. However, cochlear implantation (CI) results have yet to be published in detail.
Objective: This study presents the gene, clinical characteristics, surgical outcomes, and literature review of 2 patients with sensorineural hearing loss related to KCS2.
Expanding TBCE-related phenotype-novel variant causing rigid spine, eosinophilia, neutropenia, and nocturnal hypoxemia.
J Appl Genet
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Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland.
We report three patients with the novel variant c.100 + 1G > A of the TBCE gene and describe the presented clinical phenotype in detail. We also systematically reviewed the literature for clinical similarities and dissimilarities among all known patients with pathogenic TBCE variants.
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