Two cases of pycnodysostosis (the malady of Toulouse-Lautrec).

PYCNODYSOSTOSIS is a rare disease. Only thirty-three cases have appeared in the literature since 1923. The term pycnodysostosis (from the Greek pycnos I =dense, dus=defective and stosis=of bone) was tS U i{: ' ..........; coined by Maroteaux & Lamy in 1962 for an apparent j clinical entity which included micromelic dwarfism, increased radiological density of bone, dysplasia of the skull, atrophy ofterminal phalanges, straightening of the mandibular angle and, in some cases, dysplasia of the acromial end of the clavicle (Schuler, 1963; Elmore, 1967). The disease, inherited as an autosomal recessive, occurs in all races and both sexes, and has been diagnosed in varying age-groups from 51 months to 43 years. The distressing features of the disease are the ' gross deformities and fractures to which the dense brittle bones are especially prone. The fractures, resulting from trivial injuries, tend to occur in the mid-shafts of long bones. The blood chemistry is not altered and there is no anaemia as the bone marrow is not involved. Pycnodysostosis was the cause of Toulouse Lautrec's deformities (Maroteaux & Lamy, 1965). -