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CC BY-NC-ND 4.0 · Avicenna J Med 2014; 04(03): 74-76
DOI: 10.4103/2231-0770.133340
CASE REPORT

Kenny-Caffey syndrome type 1

Tony El Jabbour
Department of Anatomic Pathology, Faculty of Medicine, Lebanese University, Lebanon
,
Tarek Aboursheid
Department of Pediatrics, Faculty of Medicine, Damascus, Syria
,
Mohammad Baraa Keifo
Department of Pediatrics, Faculty of Medicine, Damascus, Syria
,
Ismael Maksoud
Pediatrics University Hospital, Damascus, Syria
,
Diana Alasmar
Pediatric Endocrinology and Metabolic Diseases Unit, University Children Hospital, Faculty of Medicine, Damascus University, Damascus, Syria
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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.

Keywords

Hypoparathyroidism - Kenny-Caffey - Sanjad-Sakati


Publication History

Article published online:
09 August 2021

© 2014. Syrian American Medical Society. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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  • References

  • 1 Naguib KK, Gouda SA, Elshafey A, Mohammed F, Bastaki L, Azab AS, et al. Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: A study of 21 cases in Kuwait. East Mediterr Health J 2009;15:345-52.
  • 2 Franceschini P, Testa A, Bogetti G, Girardo E, Guala A, Lopez-Bell G, et al. Kenny-Caffey syndrome in two sibs born to consanguineous parents: Evidence for an autosomal recessive variant. Am J Med Genet 1992;42:112-6.
  • 3 Kenny FM, Linarelli L. Dwarfism and cortical thickening of tubular bones. Transient hypocalcemia in a mother and son. Am J Dis Child 1966;111:201-7.
  • 4 Caffey J. Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs - Mother and son; coupled with transitory hypocalcemic tetany. Am J Roentgenol Radium Ther Nucl Med 1967;100:1-11.
  • 5 Lee WK, Vargas A, Barnes J, Root AW. The Kenny-Caffey syndrome: Growth retardation and hypocalcemia in a young boy. Am J Med Genet 1983;14:773-82.
  • 6 Sanjad SA, Sakati NA, Abu-Osba YK, Kaddoura R, Milner RD. A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features. Arch Dis Child 1991;66:193-6.
  • 7 Sanjad S, Sakati N, Abu-Osba Y. Congenital hypoparathyroidism with dysmorphic features: A new syndrome. Pediatr Res 1988;23:71A.
  • 8 Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet 2002;32:448-52.
  • 9 Kelly TE, Blanton S, Saif R, Sanjad SA, Sakati NA. Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43. J Med Genet 2000;37:63-4.