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      Kenny-Caffey syndrome type 1 in an Egyptian girl

      case-report

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          Abstract

          Kenny-Caffey syndrome type 1 (KCS1) (OMIM 244460) is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age and normal intelligence. The primary outcome of KCS1 is short stature. We present here an Egyptian girl aged 32 months with typical feature of KCS1.

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          Pathway leading to correctly folded beta-tubulin.

          Yu Huang, J Vandekerckhove, C Ampe … (1996)
          We describe the complete beta-tubulin folding pathway. Folding intermediates produced via ATP-dependent interaction with cytosolic chaperonin undergo a sequence of interactions with four proteins (cofactors A, D, E, and C). The postchaperonin steps in the reaction cascade do not depend on ATP or GTP hydrolysis, although GTP plays a structural role in tubulin folding. Cofactors A and D function by capturing and stabilizing beta-tubulin in a quasi-native conformation. Cofactor E binds to the cofactor D-beta-tubulin complex; interaction with cofactor C then causes the release of beta-tubulin polypeptides that are committed to the native state. Sequence analysis identifies yeast homologs of cofactors D (cin1) and E (pac2), characterized by mutations that affect microtubule function.
          Article 0 comments Cited 33 times – based on 0 reviews     Review now
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            A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

            Andrew R. C. Milner, N Sakati, S. Sanjad … (1991)
            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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              Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43.

              R Carmi, R Gorodischer, R Parvari … (1998)
              The syndrome of hypoparathyroidism associated with growth retardation, developmental delay, and dysmorphism (HRD) is a newly described, autosomal recessive, congenital disorder with severe, often fatal consequences. Since the syndrome is very rare, with all parents of affected individuals being consanguineous, it is presumed to be caused by homozygous inheritance of a single recessive mutation from a common ancestor. To localize the HRD gene, we performed a genomewide screen using DNA pooling and homozygosity mapping for apparently unlinked kindreds. Analysis of a panel of 359 highly polymorphic markers revealed linkage to D1S235. The maximum LOD score obtained was 4.11 at a recombination fraction of 0. Analysis of three additional markers-GGAA6F06, D1S2678, and D1S179-in a 2-cM interval around D1S235 resulted in LOD scores >3. Analysis of additional chromosome 1 markers revealed evidence of genetic linkage disequilibrium and place the HRD locus within an approximately 1-cM interval defined by D1S1540 and D1S2678 on chromosome 1q42-43.
              Article 0 comments Cited 16 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Indian J Endocrinol Metab
                Journal ID (iso-abbrev): Indian J Endocrinol Metab
                Journal ID (publisher-id): IJEM
                Title: Indian Journal of Endocrinology and Metabolism
                Publisher: Medknow Publications & Media Pvt Ltd (India )
                ISSN (Print): 2230-8210
                ISSN (Electronic): 2230-9500
                Publication date (Print): Sep-Oct 2012
                Volume: 16
                Issue: 5
                Pages: 827-829
                Affiliations
                [1] Department of Pediatrics, Pediatric Endocrinology Unit, Assiut Children University Hospital, Assiut, Egypt
                Author notes
                Corresponding Author: Dr. Kotb Abbass Metwalley, Assistant Professor of Pediatric Endocrinology and Diabetes, Pediatric Endocrinology Unit, Assiut Children University Hospital, Assiut University, Assiut, Egypt. E-mail: kotb72@ 123456yahoo.com
                Article
                Publisher ID: IJEM-16-827
                DOI: 10.4103/2230-8210.100645
                PMC ID: 3475915
                PubMed ID: 23087875
                SO-VID: 14f31b04-b8ed-4534-97fc-6989f5f31983
                Copyright © Copyright: © Indian Journal of Endocrinology and Metabolism
                License:

                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.

                History
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Endocrinology & Diabetes
                Keywords: sanjad sakati syndrome,dysmorphic,hypoparathyroidism,kenny-caffey syndrome type 1,growth retardation
                Data availability:
                ScienceOpen disciplines: Endocrinology & Diabetes
                Keywords: sanjad sakati syndrome, dysmorphic, hypoparathyroidism, kenny-caffey syndrome type 1, growth retardation

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