Abstract
Dyggve-Melchior-Clausen syndrome is a rare autosomal-recessive disorder, characterized by progressive spondylo-epi-metaphyseal dysplasia associated with mental retardation. The clinical and radiological findings resembles Morquio disease at the onset of condition, which may hinder its diagnosis. Two siblings with chatacteristic clinical (progressive postnatal dwarfism and mental retardation) and radiological features (irregular lace-like appearance of the iliac crests) are reported.
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Gupta, V., Kohli, A. & Dewan, V. Dyggve-Melchior-Clausen syndrome. Indian Pediatr 47, 973–975 (2010). https://doi.org/10.1007/s13312-010-0151-x
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DOI: https://doi.org/10.1007/s13312-010-0151-x