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The natural history of sclerosteosis
Author(s) -
Hamersma H,
Gardner J,
Beighton P
Publication year - 2003
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2003.00036.x
Subject(s) - syndactyly , natural history , medicine , hyperostosis , genotype , founder effect , skull , autopsy , pediatrics , pathology , surgery , biology , genetics , gene , haplotype
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.