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Van Bogaert-Hozay syndrome

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A Familial form of acro-osteolysis associated with a mild mental retardation, skin atrophy, facial dysmorphism, and ocular defects.

Facial and ocular anomalies include asymmetry, flat nose with broad bridge, thickened cheeks, malformed ears, pronounced zygomatic arc, hypertelorism, micrognathia, malocclusion, arched palate, hypoplasia of cilia and eyebrows, eyelid ptosis, alternating squint, astigmatism and myopia. The extremities are short, with sudden arrest of growth. The fingers and toes are aplastic, having infantile appearance, and the distal end of the ulna is underdeveloped. From normal to mild mental retardation. Both sexes affected; onset at 3 years of age. Etiology unknown. Possible autosomal recessive inheritance.

The condition was described by van Bogaert and Hozay in the same pair of siblings in 1952, respectively 1953.


  • J. Hozay:
    Sur une dystrophie familiale particulière. Inhibition précoce de la croissance et ostéolyse non mutilante acrale avec dysmorphie faciale.
    Revue neurologique, Paris, 1953, 89: 245-258.
  • L. van Bogaert:
    Essai de classement et d'interprétation de quelques acro-ostéolyses mutilantes et non mutilantes actuellement connues.
    Acta neurologica et psychiatrica Belgica, Brussels, 1953, 53: 90-115.

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