STUDY DESIGN: This study analyzed the mode of inheritance of ossification of the posterior longitudinal ligament (OPLL) from the pedigree of a family. OBJECTIVES: The results were correlated to provide a new mode of inheritance of OPLL. SUMMARY OF BACKGROUND DATA: Although a nation-wide multicenter survey of OPLL has been carried out in 347 subjects and 1030 relatives in Japan since 1981, no parental consanguinity has been reported. METHODS: In the family, three siblings and one other member of a family underwent operations for OPLL in our department, and the clinical information regarding other family members was obtained from interviews with these four patients or relatives. RESULTS: The parents of three affected siblings and another unaffected sister were first cousins, and the father was suspected to be affected as well. CONCLUSION: Transmission of OPLL as an autosomal recessive trait in this family, which has not been reported, is suspected; although, the possibility that it is a dominant trait can not be excluded.
STUDY DESIGN: This study analyzed the mode of inheritance of ossification of the posterior longitudinal ligament (OPLL) from the pedigree of a family. OBJECTIVES: The results were correlated to provide a new mode of inheritance of OPLL. SUMMARY OF BACKGROUND DATA: Although a nation-wide multicenter survey of OPLL has been carried out in 347 subjects and 1030 relatives in Japan since 1981, no parental consanguinity has been reported. METHODS: In the family, three siblings and one other member of a family underwent operations for OPLL in our department, and the clinical information regarding other family members was obtained from interviews with these four patients or relatives. RESULTS: The parents of three affected siblings and another unaffected sister were first cousins, and the father was suspected to be affected as well. CONCLUSION: Transmission of OPLL as an autosomal recessive trait in this family, which has not been reported, is suspected; although, the possibility that it is a dominant trait can not be excluded.
Authors: Ali Al Kaissi; Elisabeth Zwettler; Katharina M Roetzer; Joerg Haller; Franz Varga; Klaus Klaushofer; Franz Grill Journal: J Med Case Rep Date: 2007-06-06