Acroform type of enchondromatosis

Description: Enchondromatosis represent a heterogenous group of disorders. Spranger et al attempted a classification into 6 types: Ollier disease, Maffuci syndrome, metachondromatosis, spondyloenchondrodysplasia, enchondromatosis with irregular vertebral lesions, and generalized enchondromatosis. Halal and Azouz added 3 tentative categories to the 6 in the classification of Spranger et al. CASE PRESENTATION: We report on a 15-year-old boy with acrofrom upper limbs and mixed appearance of radiolucency, cysts and striae of fibro-chondromatosis. Lower limbs (femoral, tibial and fibular dysplasia showed enlarged metaphyses near the knees bilaterally) were present. Additional features of short stature, macrocephaly, facial dysmorphism, and generalised platyspondyly have been encountered. These bone shortenings were associated with bone bending, curving and rhizomelia of the upper limbs with significant macrodactyly. Limitations in articular movements were present. The forearm deformities were similar to those observed in hereditary multiple exostosis.
Acroform type of enchondromatosis associated with severe vertebral involvement and facial dysmorphism in a boy with a new variant of enchondromatosis type I1 of Spranger: case report and a review of the literature. Kaissi AA, Roetzer K, Klaushofer K, Grill F. Cases J. 2008 Nov 18;1(1):324. Full Text