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.

Keywords

Hypoparathyroidism - Kenny-Caffey - Sanjad-Sakati

• 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.