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Jornal de Pediatria
On-line version ISSN 1678-4782
PASCOLAT, Gilberto et al. Rhizomelic chondrodysplasia punctata: case report. J. Pediatr. (Rio J.) [online]. 2003, vol.79, n.2, pp.189-192. ISSN 1678-4782. http://dx.doi.org/10.1590/S0021-75572003000200015.
OBJECTIVES: to report a case of rhizomelic chondrodysplasia punctata and present a brief literature review. DESCRIPTION: the authors report the case of a 52 days-old child presenting the main findings of the syndrom: rhizomelic micromelia, characteristic facies, suction difficulty and anthropometric measures below the expected indexes for his age. Skeletal radiographies showed humeri and femora shortening and calcific stippling on shoulders, hips and knees joints. The patient also presented heart malformation, a less common manifestation of the syndrom. COMMENTS: the rhizomelic form of chondrodysplasia punctata is rare, with only 72 cases reported until 1995. The prognosis is bad and death usually occurs within the first year of age. The case presented here was diagnosed based on clinical and radiological criteria, due to the impossibility of searching for the peculiar biochemical markers.
Keywords : chondrodysplasia punctata; rhizomelic chondrodysplasia punctata; peroxissomal disorder.