Osteolysis Syndrome, Recessive

Petit and Fryns (1986) described an apparently autosomal recessive form of distal osteolysis in the son and daughter of unaffected consanguineous parents. The hands and feet showed severe resorption abnormalities with absence of the distal and middle phalanges. There was distal muscular hypertrophy, and the skin of the volar part of the hands was loose without other peculiarities. The osteolysis had begun at an early age and was rapidly progressive. Changes were most pronounced in the phalanges but occurred also in the distal ulnar and radial epiphyses. Joint limitation and flexion contractures developed in the elbows and knees. X-ray changes were evident at age 7 years, and by age 9 almost complete disruption of the distal and middle phalanges of all fingers and toes had occurred. In addition to the osteolysis the patients were short in stature, had mild to moderate mental deficiency but satisfactory social adaptation, and characteristic facies: maxillary hypoplasia, relative exophthalmos, and broad nasal tip. The surviving sister, aged 57 years, was 146 cm tall. Neurologic examination was normal. Petit and Fryns (1986) suggested that the same facial features may be found in patients with multicentric osteolysis or carpal and tarsal osteolysis with autosomal dominant inheritance.