ArticleJournal of medical genetics1998
Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
7 citing papers in PubMed, 35 citations in OpenAlex.
- Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).Molecular genetics & genomic medicine · 2024Review
- Review
- Ophthalmologic Impairment and Intellectual Disability in a Girl Presenting Kenny-Caffey Syndrome Type 2.Journal of pediatric genetics · 2020Article
- Neurological manifestations in children with Sanjad-Sakati syndrome.International journal of general medicine · 2013Article
- Kenny-Caffey syndrome without the CATCH 22 deletion.Journal of medical genetics · 1998Article
- Genotypic/phenotypic heterogeneity of Kenny-Caffey syndrome.Journal of medical genetics · 1998Article
- Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.Journal of medical genetics · 1998Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report four sibs with Kenny-Caffey syndrome in a consanguineous Bedouin family. The first two died in the neonatal period while the remaining affected brother and sister had all the characteristic clinical, biochemical, and radiological abnormalities of the syndrome. These included severe pre- and postnatal growth retardation, cortical thickening of the tubular bones with medullary stenosis, eye abnormalities, facial dysmorphism, hypocalcaemia, and low levels of parathyroid hormone. The children also showed intracranial calcification, impaired neutrophil phagocytosis, increased proportion of B lymphocytes, reduced CD4 and CD8 subpopulations of T lymphocytes, and inhibited transformation in response to Candida antigen. Fluorescence in situ hybridisation (FISH) was applied to blood lymphocyte metaphase spreads from these two Bedouin sibs and their parents using probe D22S75 (Oncor), specific for the DiGeorge critical region on chromosome 22q11.2. The presence of 22q11.2 haploinsufficiency was identified in the affected sibs, which was transmitted from the phenotypically normal mother. The present report widens the spectrum of CATCH 22 microdeletion to accommodate Kenny-Caffey syndrome.
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