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Lenz-Majewski syndrome

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A very rare syndrome of multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis. Characterised by progeria, growth retardation, vein dilatation, large anterior fontanelle, emaciation, large ears (choanal atresia), hands and feet syndactyly, joint hyperextension, and dental enamel hypoplasia.

Only two cases reported (1990). Present from birth. The syndrome is believed to be transmitted as an autosomal dominant trait.

R. L. Braham in 1969 described it as Camurati-Engelmann syndrome. Lenz and Majewski in 1974 delimitated the disease picture as an independent entity.


  • R. L. Braham:
    Multiple congenital abnormalities with diaphyseal dysplasia (Camurati-Engelmann syndrome).
    Oral Surgery, 1969, 27: 20-26.
  • W. D. Lenz, F. Majewski:
    A generalized disorder of the connective tissues with progeria, choanal atresia, symphalangism, hypoplasia of dentine and craniodiaphyseal hypostosis.
    Birth Defects Original Article Series, New York, 1974, X (12): 133-136.

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