Kallmann syndrome associated with choanal atresia

Clin Genet. 1987 Apr;31(4):224-7. doi: 10.1111/j.1399-0004.1987.tb02800.x.

Abstract

Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. A previously unreported association of Kallmann syndrome and choanal atresia in a family is reported. The mechanism of the embryopathic association of hypogonadotropic hypogonadism, anosmia, and choanal atresia is though to be due to a single developmental field defect in the region of the median forebrain and associated structures. An irregular autosomal dominant mode of inheritance is suspected.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Choanal Atresia / complications
  • Choanal Atresia / embryology
  • Choanal Atresia / genetics*
  • Female
  • Humans
  • Hypogonadism / complications
  • Hypogonadism / embryology
  • Hypogonadism / genetics*
  • Olfaction Disorders / complications
  • Olfaction Disorders / embryology
  • Olfaction Disorders / genetics*
  • Pedigree
  • Syndrome