Jan 2, 1995

Natural history study of hereditary multiple exostoses

American Journal of Medical Genetics
C L WicklundJ T Hecht

Abstract

Hereditary multiple exostosis (EXT) is an autosomal dominant disorder in which the clinical hallmark is the growth of bony protuberances from long bones and which can cause a variety of orthopedic deformities. This study sought to further delineate the natural history of EXT. In addition, since previous studies have suggested that there are deviations from Mendelian expectations in EXT, including incomplete penetrance and a skewed sex ratio, we attempted to confirm or refute these suggestions. Both portions of the study were carried out through retrospective review of 43 affected probands and 137 of their affected relatives. Data are presented concerning frequency and severity of complications of EXT including short stature, sequelae of exostoses, occurrence of malignant degeneration of exostoses, and problems in pregnancy and delivery of affected females. Only 2.8% of the total affected population had experienced exostosis-related malignancy, an estimate which is considerably less than earlier reports would suggest. Penetrance was 100%. There was an excess of males within the entire affected population (104:76) and within identified probands (28:15). However, the male to female ratio was unskewed in nuclear families (probands,...Continue Reading

Mentioned in this Paper

Abnormal Degeneration
Exostoses
Hereditary Multiple Exostoses
Cataract, Autosomal Dominant
Genetic Conditions, Dominant
Gene Expression
Primary Malignant Neoplasm
Autosomal Dominant Inheritance
Short Stature, Idiopathic, Autosomal
Pregnancy Complications

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