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      Kenny-Caffey syndrome type 1

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          Abstract

          Kenny-Caffey syndrome type 1 is a rare hereditary skeletal disorder. We present here a documented case of a 7-month-old girl with the characteristic symptoms of growth retardation, dysmorphic features, and hypoparathyroidism.

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          Most cited references 10

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          Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

          The syndrome of congenital hypoparathyroidism, mental retardation, facial dysmorphism and extreme growth failure (HRD or Sanjad-Sakati syndrome; OMIM 241410) is an autosomal recessive disorder reported almost exclusively in Middle Eastern populations. A similar syndrome with the additional features of osteosclerosis and recurrent bacterial infections has been classified as autosomal recessive Kenny-Caffey syndrome (AR-KCS; OMIM 244460). Both traits have previously been mapped to chromosome 1q43-44 (refs 5,6) and, despite the observed clinical variability, share an ancestral haplotype, suggesting a common founder mutation. We describe refinement of the critical region to an interval of roughly 230 kb and identification of deletion and truncation mutations of TBCE in affected individuals. The gene TBCE encodes one of several chaperone proteins required for the proper folding of alpha-tubulin subunits and the formation of alpha-beta-tubulin heterodimers. Analysis of diseased fibroblasts and lymphoblastoid cells showed lower microtubule density at the microtubule-organizing center (MTOC) and perturbed microtubule polarity in diseased cells. Immunofluorescence and ultrastructural studies showed disturbances in subcellular organelles that require microtubules for membrane trafficking, such as the Golgi and late endosomal compartments. These findings demonstrate that HRD and AR-KCS are chaperone diseases caused by a genetic defect in the tubulin assembly pathway, and establish a potential connection between tubulin physiology and the development of the parathyroid.
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            A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

            Twelve infants (six boys, six girls) with severe hypocalcaemic tetany or convulsions were seen over a three year period. Nine patients were symptomatic in the newborn period. Their hypocalcaemia was associated with hyperphosphataemia and very low concentrations of immunoreactive parathyroid hormone. None of the babies suffered from congenital cardiac disease. Cell mediated immunity, measured in five patients, was normal. There were no chromosomal abnormalities but all patients shared several dysmorphic features including deep set eyes, microcephaly, thin lips, beaked nose tip, external ear anomalies, micrognathia, and depressed nasal bridge. Mental retardation of varying degree was found in all patients. All had severe intrauterine and postnatal growth retardation. Four patients have died. The remaining eight patients are on treatments with vitamin D and calcium supplements with no change in their growth pattern. We believe that this association of congenital hypoparathyroidism with severe growth failure and dysmorphism represents a new syndrome.
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              Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43.

               S. Sanjad,  R. Saif,  N Sakati (1999)
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                Author and article information

                Journal
                Avicenna J Med
                Avicenna J Med
                AJM
                Avicenna Journal of Medicine
                Medknow Publications & Media Pvt Ltd (India )
                2231-0770
                2249-4464
                Jul-Sep 2014
                : 4
                : 3
                : 74-76
                Affiliations
                Department of Anatomic Pathology, Faculty of Medicine, Lebanese University, Lebanon, Syria
                [1 ] Department of Pediatrics, Faculty of Medicine, Damascus, Syria
                [2 ] Pediatrics University Hospital, Faculty of Medicine, Damascus University, Damascus, Syria
                [3 ] Pediatric Endocrinology and Metabolic Diseases Unit, University Children Hospital, Faculty of Medicine, Damascus University, Damascus, Syria
                Author notes
                Address for correspondence: Dr. S Tony El Jabbour, Saint Elie Street, Joseph Attieh's Building, 4 th Floor, Dekweneh, Lebanon. E-mail: tonijab@ 123456hotmail.com
                Article
                AJM-4-74
                10.4103/2231-0770.133340
                4065464
                Copyright: © Avicenna Journal of Medicine

                This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                Categories
                Case Report

                Medicine

                hypoparathyroidism, kenny-caffey, sanjad-sakati

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