Brachydactylia with symphalangism, probably autosomal recessive

Roland Walbaum1, Claude Hazard1, Roger Cordier1
1Centre hospitalier, Roubaix, France

Tóm tắt

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.

Từ khóa


Tài liệu tham khảo

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)