Abstract
A ten year old South African girl of mixed ancestry presented with gross facial abnormalities and dwarfism consequent upon a bizarre skeletal dysplasia. The main radiographic features were craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyly. Intelligence was normal and there were no systemic ramifications. The term “osteoglophonic dwarfism” is a succinct and apt designation for this remarkable disorder.
References
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Keats TE, Smith TH, Sweet DE (1975) Craniofacial dysostosis with fibrous metaphyseal defects. AJR 124: 271
Beighton P (1978) In: Inherited disorders of the skeleton. Churchill Livingstone, London, p 159
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Beighton, P., Cremin, B.J. & Kozlowski, K. Osteoglophonic dwarfism. Pediatr Radiol 10, 46–50 (1980). https://doi.org/10.1007/BF01644343
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DOI: https://doi.org/10.1007/BF01644343