Summary
Association, in one patient, of the following malformations: brachydactylia of all segments but terminal phalanges; proximal symphalangism of many fingers and toes; abnormalities of carpal and tarsal bones; partial duplication of both big toes; mild hypertelorism. Genetic transmission seems to be recessive autosomal.
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References
Cushing, H.: Hereditary anchylosis of proximal phalangeal joints (symphalangism). Genetics 1, 90–106 (1916)
Fuhrmann, W. G., Steffens, C., Rompe, U.: Dominant erbliche doppelseitige Dysplasie und Synostose des Ellenbogengelenks mit symmetrischer Brachymesophalangie und Brachymetakarpie sowie Synostosen im Finger-, Hand- und Fußwurzelbereich. Humangenetik 3, 64–75 (1966)
Gerald, B. D., Silverman, F. N.: Normal and abnormal interorbital distances. Amer. J. Roentgenol. 95, 154–161 (1965)
Maroteaux, P., Bouvet, J. P., Briard, M. L.: La maladie des synostoses multiples. Nouv. Presse Méd. 1, 3041–3044 (1972)
Maroteaux, P., Malamut, G.: L'acrodysostose. Presse méd. 76, 2189–2192 (1968)
McKusick, V. A.: Mendelian inheritance in man, 4th ed. Baltimore: The Johns Hospkins University Press 1975
Robinow, M., Pfeiffer, R. A., Gorlin, R. J., McKusick, V. A., Renuart, A. W., Johnson, G. F., Summit, R. L.: Acrodysostosis. Amer. J. Dis. Child. 121, 195–203 (1971)
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Walbaum, R., Hazard, C. & Cordier, R. Brachydactylia with symphalangism, probably autosomal recessive. Hum Genet 33, 189–192 (1976). https://doi.org/10.1007/BF00281896
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DOI: https://doi.org/10.1007/BF00281896