François' syndrome II

Alternative eponyms

Related people

A familial syndrome, characterized by corneal dystrophy with minute punctate opacities in all layers, and osteochondral dystrophy of the extremities.

Description

A familial syndrome, characterized by corneal dystrophy with minute punctate opacities in all layers, and osteochondral dystrophy of the extremities. Both sexes affected; normal at birth, onset at 1 to 2 years of age. Osteochondral deformities at hands and feet; ulnar deviation with micromelia, clawhand, and short pes cavus. Concomitant development of xanthomalike, small, yellowish, hard nodules in the skin. Nephropathy and proteinuria may occur. Etiology unknown. Inheritance is autosomal recessive.

Bibliography

  • J. François:
    Dystrophie dermo-chondro-cornéenne familiale.
    Annales d’oculistique, Paris, 1949, 182: 409-422.

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