The natural history of sclerosteosis

Authors

  • H Hamersma,

    1. Otologist, Flora Clinic, Florida Hills, Roodepoort, Gauteng and
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  • J Gardner,

    1. Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa
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  • P Beighton

    Corresponding author
    1. Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa
      Corresponding author: Emeritus Professor Peter Beighton, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Observatory 7925, Cape Town, South Africa. Tel.: +27-21-406-6530; fax: +27-21-447-7703; e-mail: pb@cormack.uct.ac.za
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Corresponding author: Emeritus Professor Peter Beighton, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Observatory 7925, Cape Town, South Africa. Tel.: +27-21-406-6530; fax: +27-21-447-7703; e-mail: pb@cormack.uct.ac.za

Abstract

Sclerosteosis (SCL) is a severe, progressive, autosomal-recessive craniotubular hyperostosis (MIM 269500). The determinant gene (SOST) has been isolated, and genotype–phenotype correlations, as well as the elucidation of pathogenetic mechanisms, are dependent upon the documentation of the natural history of the condition. For this reason, the course and complications in 63 affected individuals in South Africa, seen over a 38-year period, have been analyzed. Thirty-four of these persons died during the course of the survey, 24 from complications related to elevation of intracranial pressure as a result of calvarial overgrowth. The mean age of death in this group of individuals was 33 years, with an even gender distribution. Facial palsy and deafness, as a result of cranial nerve entrapment, developed in childhood in 52 (82%) affected persons. Mandibular overgrowth was present in 46 (73%) adults and syndactyly in 48 (76%). In South Africa in 2002, 29 affected persons were alive, 10 being ≤20 years of age. It is evident that sclerosteosis is a severe disorder which places a considerable burden upon affected individuals and their families.

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