RSS-Feed abonnieren
DOI: 10.4103/2231-0770.133340
Kenny-Caffey syndrome type 1
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.
Publikationsverlauf
Artikel online veröffentlicht:
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/).
Thieme Medical and Scientific Publishers Private Ltd.
A-12, Second Floor, Sector -2, NOIDA -201301, India
-
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.