Summary
Two sibs with short stature, unusual facies and open bite are described. It appears that the findings in these patients constitute a hitherto undescribed familial entity.
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References
Emery, A. E. H., Nelsom, M. M.: A familial syndrome of short stature, deformities of the hands and feet, and unusual facies. J. med. Genet. 7, 379 (1970).
Weinstein, S., Gorlin, R. J.: Cranio-carpotarsal dysplasia or whistling face syndrome. Amer. J. Dis. Child. 117, 427 (1969).
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Say, B., Tuncbilek, E. & Pirnar, T. A familial syndrome of unusual facies associated with malocclusion and short stature. Hum Genet 18, 279–282 (1973). https://doi.org/10.1007/BF00290609
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DOI: https://doi.org/10.1007/BF00290609