[A new autosomal-recessive hereditary syndrome. Multiple peripheral pulmonary stenosis, brachytelephalangia, inner-ear deafness, ossification or calcification of cartilages]

Dtsch Med Wochenschr. 1971 Oct 22;96(43):1676-81 passim. doi: 10.1055/s-0028-1110200.
[Article in German]
No abstract available

MeSH terms

  • Adult
  • Audiometry
  • Calcinosis / etiology
  • Calcinosis / genetics*
  • Cardiac Catheterization
  • Cartilage Diseases / etiology
  • Cartilage Diseases / genetics*
  • Child
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Congenital Abnormalities / genetics
  • Female
  • Fingers / abnormalities
  • Hearing Disorders / etiology
  • Hearing Disorders / genetics*
  • Heart Function Tests
  • Humans
  • Labyrinth Diseases / genetics
  • Male
  • Nose
  • Pedigree
  • Pulmonary Valve Stenosis / complications
  • Pulmonary Valve Stenosis / etiology
  • Pulmonary Valve Stenosis / genetics*