Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome?

J Med Genet. 2003 Jan;40(1):e2. doi: 10.1136/jmg.40.1.e2.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Body Height / genetics
  • Body Height / physiology
  • Cerebellar Ataxia / diagnosis*
  • Cerebellar Ataxia / genetics
  • Cerebellar Ataxia / pathology
  • Choroid Diseases / diagnosis*
  • Choroid Diseases / genetics
  • Choroid Diseases / pathology
  • Consanguinity
  • Diagnosis, Differential
  • Female
  • Genes, Recessive / genetics
  • Gonadotropins / genetics
  • Gonadotropins / metabolism
  • Growth Disorders / diagnosis*
  • Growth Disorders / genetics
  • Growth Disorders / pathology
  • Humans
  • Hypogonadism / diagnosis*
  • Hypogonadism / genetics
  • Hypogonadism / pathology
  • Male
  • Neutrophils / chemistry
  • Neutrophils / metabolism
  • Neutrophils / pathology*
  • Pedigree
  • Retinal Degeneration / diagnosis*
  • Retinal Degeneration / genetics
  • Retinal Degeneration / pathology
  • Syndrome

Substances

  • Gonadotropins