Nance-Sweeney syndrome

Alternative eponyms

Related people

A very rare chondrodystrophy associated with dwarfism.

Description

A very rare chondrodystrophy associated with dwarfism. Long list of characteristics include disproportionate short limbs, vertebral abnormalities, large head with prominent forehead, flat face with saddle nose, cleft palate, thick leathery skin, and deafness. Intelligence and life expectancy are normal. Inheritance is autosomal recessive

See also Weissenbacher-Zweymüller syndrome, under G. Weissenbacher, Austrian paediatrician.

Bibliography

  • W. E. Nancy, A. Sweeney:
    A recessively inherited chondrodystrophy.
    Birth Defects Original Article Series, New York, 1970, 6(4): 25-27.
  • J. Insley, R. Astley:
    A bone dysplasia with deafness.
    British Journal of Radiology, London, 1974, 47: 244-251.

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