Bilateral optic atrophy in Kenny's syndrome

Journal of Pediatric Genetics, 2020

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.

Journal of American Association for Pediatric Ophthalmology and Strabismus, 2007

An unusual congenital syndrome was first reported in 1966 by Kenny and Linarelli, who described two patients with dwarfism, cortical thickening of the long bones, transient hypocalcemia, and normal intelligence, 1 the radiological features in the condition being reported by Caffey. 2 The constellation of dwarfism, medullary stenosis, transient hypocalcemia, and ophthalmologic abnormalities has been classically recognized as Kenny-Caffey syndrome with additional manifestations ranging from hypoplastic nails, persistent neutropenia, abnormal T-cell function, and neonatal liver disease. 3 Ocular findings range from uncomplicated nanophthalmos with hypermetropia to extreme pseudopapilloedema, vascular tortuosity, and macular crowding. Other reported ophthalmic findings include bilateral band keratopathy, 4 bilateral optic atrophy, 5 and myelinated nerve fibers. We report two cases of Kenny-Caffey syndrome with an ellipsoid macular fold orientated horizontally involving the fovea and document this unusual feature with optical coherence topography (OCT ).

Clinical Genetics, 1999

2006

Kenny-Caffey syndrome is a rare hereditary skeletal syndrome characterized by dysmorphic features, severe growth retardation, classical radiological changes and hypocalcemia with hypoparathyroidism at an early age. We report an 8-month-old girl child with Kenny-Caffey syndrome who had most of the features of the syndrome. Any child with hypocalcemia who has typical facial features should raise a suspicion of this syndrome.

The Journal of Clinical Endocrinology & Metabolism

Context Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism and electrolyte disturbances. KCS1 and KCS2 are caused by pathogenic variants in TBCE and FAM111A, respectively. Clinically the phenotypes are difficult to distinguish. Objective The objective was to determine and expand the phenotypic spectrum of KCS1 and KCS2 in order to anticipate on complications that may arise in these disorders. Design We clinically and genetically analyzed ten KCS2 patients from seven families. Because we found unusual phenotypes in our cohort, we performed a systematic review of genetically confirmed KCS cases using PubMed and Scopus. Evaluation by three researchers led to the inclusion of 26 papers for KCS1 and 16 for KCS2, totaling 205 patients. Data were extracted following the Cochrane guidelines and assessed by two independent researchers. Results Several patients in our KCS2 cohort presented with intellectual disability (3/10) and chroni...

Genomics, 1998

Kenny-Caffey syndrome (KCS) is an osteosclerotic bone dysplasia with associated hypocalcemia and ocular abnormalities. Both autosomal dominant (MIM127000) and autosomal recessive (MIM244460) inheritance patterns have been described. Using eight consanguineous Kuwaiti kindreds, a genome-wide search for linkage to the gene causing the autosomal recessive form of KCS was performed with polymorphic short tandem repeat markers. Significant linkage to a locus situated at chromosome 1q42 3 q43 with a maximal two-point lod score of 13.30 with marker D1S2649 was obtained. Haplotype analysis of flanking markers identified recombination events defining the KCS locus to a region between markers D1S2800 on the centromeric boundary and D1S2850 on the telomeric boundary, an approximately 4-cM interval. All affected individuals in these unrelated kindreds were homozygous for identical alleles at markers D1S2649 and D1S235, suggesting a single ancestral mutation underlying the disease in these families. Haploinsufficiency at 22q11, reported in another consanguineous KCS kindred, was not documented in these families.

Eastern Mediterranean Health Journal, 2009

We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity was recorded in 2 families (12.5%). All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in situ hybridization studies were normal. All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. All of the parents were heterozygous carriers of this mutation. The high frequency of SSS and low frequency of consanguineous marriages in this study may reflect a high rate of heterozygous carriers. Syndrome de Sanjad-Sakati et syndrome de Kenny-Caffey de type 1 : étude de 21 cas au Koweït RÉSUMÉ Nous avons étudié le cas de 21 sujets atteints du syndrome de Sanjad-Sakati (SSS) dans 16 familles. Une consanguinité parentale a été relevée dans deux familles (12,5 %). Tous les patients présentaient un grave retard de croissance intra-utérin, une petite taille, des petites mains et des petits pieds, une sclérotique bleue, des yeux enfoncés, une microcéphalie, une hypocalcémie persistante et une hypoparathyroïdie. Une sténose médullaire a été détectée chez deux sujets. Les études cytogénétiques et FISH (hybridation fluorescente in situ) étaient normales. Toutes les personnes touchées présentaient une délétion homozygote de 12 bp (155-166 del) dans l'exon 3 du gène TBCE. Tous les parents étaient porteurs hétérozygotes de cette mutation. La fréquence élevée de SSS et faible de mariages consanguins dans cette étude peut s'expliquer par un taux élevé de porteurs hétérozygotes.

Preprints, 2024

This research is dedicated to a comprehensive examination of the strengths and weaknesses inherent in the legal and institutional measures designed to protect cultural heritage in the Republic of Serbia from the adverse effects of natural disasters, including earthquakes, landslides, rockfalls, floods, torrents, storms, hail, and forest fires. The study aims to identify the primary challenges and shortcomings within the existing legal and institutional framework, while also pinpointing and analyzing best practices and potential improvements for the protection system. This research posits a preliminary hypothesis suggesting that challenges may exist within the legal and institutional framework for the protection of cultural heritage in the Republic of Serbia, potentially limiting effective response and recovery following natural disasters. This hypothesis will be further developed and adapted based on the analysis of available data. Data collection for this research was conducted through semi-structured interviews with experts and an in-depth analysis of existing documentation. By conducting interviews with experts in the field, the research seeks to gather critical data and insights that will enhance the understanding of these issues and contribute to formulating viable solutions. The analysis and processing of data were carried out using ATLAS.ti software, which facilitated a comprehensive and systematic examination of the collected qualitative information. Furthermore, an assessment of the current capacity of institutions to respond rapidly and effectively to natural disasters that pose a threat to cultural heritage is a key component of the study. The ultimate goal is to develop recommendations that will fortify the legal and institutional framework, thereby bolstering the resilience of cultural heritage sites in Serbia against future natural disasters. The results of the research, highlight significant deficiencies in the legal framework, inadequate institutional capacities and resources, as well as a lack of proper training for crisis response. The need for improved inter-institutional cooperation and the development of technical-logistical resources is emphasized. This paper represents a significant contribution to the understanding and enhancement of the cultural heritage protection system, providing a foundation for further research and strategy development in this area.

International Journal for the Semiotics of Law, 2024

This article highlights certain aspects of Rodolfo Sacco's theoretical work on comparative law. Rather than offering an exhaustive discussion, it outlines key points in his intellectual journey to help the reader understand how certain themes gained prominence in his work. An outstanding figure in the comparative law community since the 1970s, he remained active until the end of his life, well into the twentyfirst century. Through his many contributions to the field, Sacco took comparative law research in new directions. He developed a more nuanced and complex analysis of the tasks of the comparative lawyer, elaborating an approach to comparison that does justice to the multiple components of all legal systems ("legal formants") and their dynamics. We owe him a fine study of the silent, implicit dimensions of law that have a major impact on its application ("cryptotypes"), and a reflection on the relationship between law and language that shows how comparative law is deeply implicated in the process of translation.