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      Kenny-Caffey syndrome type 1

      case-report

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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 references8

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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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            Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait.

            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.
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              Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs--mother and son; coupled with transitory hypocalcemic tetany.

              J CAFFEY (1967)
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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
                [1] 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
                45a19ee0-294a-4ed0-bdf5-c37d421ab46c
                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
                Medicine
                hypoparathyroidism, kenny-caffey, sanjad-sakati

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