Author(s): Sinha GP, Curtis P, Haigh D, Lealman GT, Dodds W,
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Abstract We report a family with pachydermoperiostosis (idiopathic hypertrophic osteoarthropathy) spanning four generations with 10 affected individuals, four of whom are children although pachydermoperiostosis is rare in childhood. In this family, with intermarriage, the inheritance is autosomal recessive and it is possible that there are individuals who are homozygous for the pachydermoperiostosis gene. These individuals do not appear to be more severely affected, although one of them had a cleft palate and congenital heart defect which may be a manifestation of being homozygous.
This article was published in Br J Rheumatol
and referenced in Journal of Primatology