HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)

Am J Med Genet. 1997 Dec 31;73(4):416-8. doi: 10.1002/(sici)1096-8628(19971231)73:4<416::aid-ajmg9>3.0.co;2-l.

Abstract

A combination of hypoparathyroidism, sensorineural deafness, and renal dysplasia has been considered to be a new syndrome inherited in an autosomal dominant fashion; we name the condition "HDR syndrome." We describe a Japanese girl who has HDR syndrome associated with de novo del(10)(p13). The chromosome deletion suggests that the putative gene(s) responsible for HDR syndrome is located at a 10pter-->p13 region.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Calcium / blood
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 10*
  • Deafness / genetics*
  • Developmental Disabilities / genetics
  • Female
  • Humans
  • Hypertelorism / genetics
  • Hypoparathyroidism / complications
  • Hypoparathyroidism / genetics*
  • Kidney / abnormalities*
  • Kidney / pathology
  • Male
  • Syndrome
  • Toes / abnormalities

Substances

  • Calcium