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Ectrodactyly-mandibulo-facial dysostosis: case report and delineation of an entity
P D Turnpenny1, A W Johnston, J C Dean
1Medical School, Foresterhill, Aberdeen, UK.
Clinical Dysmorphology
|April 1, 1992
Abstract:
We describe a 24-year-old woman with tetramelic ectrodactyly, mandibulo-facial dysostosis and cleft uvula. This rare association has previously been reported in two families, but with ectrodactyly affecting only the feet. We propose the new term ectrodactyly-mandibulo-facial dysostosis for this entity.