Abstract
A 7-year-old girl with unusual facial features, punctate calcifications of the cartilage and congenital conductive deafness is presented. It is suggested that this case may represent a hitherto undescribed syndrome since the findings in this patient do not fit into any of the well described disorders such as Conradi's disease, oto-palato-digital syndrome or cerebro-hepato-renal syndrome.
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Say, B., Balci, S., Pirnar, T. et al. Unusual calcium deposition in cartilage associated with short stature and peculiar facial features: A case report. Pediatr Radiol 1, 127–129 (1973). https://doi.org/10.1007/BF00973228
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DOI: https://doi.org/10.1007/BF00973228