Familial bone dysplasias
Tóm tắt
A family of six children of Bengali origin is reported. The patients and two of the children (one male and one female) were normal. Four children (two boys and two girls) manifestated two different forms of bone disease (Morquio-Brailsford’s epiphyseal bone disease in the boys, Jansen’s metaphyseal dysostosis in the girls) with universal vertebra plana common to all. The theoretical possibility of such overlapping of the two forms of bone disease has been suggested in the past, but such an occurrence in the same sibship had so far not been reported in the English literature.
Tài liệu tham khảo
Catel, W. (1961). Differential Diagnose von krankene itssymptomen bei kindern und Jugendlichen.George Thieme Verlag, Stuttgart, p. 96.
Dent, C. F. and Normand, I. C. S. (1964). Metaphyseal dysostosis, type Schmid.Arch. Dis. Child. 39, 444.
Evans, R. and Caffey, J. (1958). Metaphyseal dysostosis resembling vitamin D refractory rickets.Amer. J. Dis. Child. 95, 640.
Fairbank, T. (1951). An atlas of general affection of the skeleton.William and Wilkins, Baltimore, p. 85.
Kozlowski, K. (1964). Metaphyseal dysostosis, report of five familial and two sporadic cases of a mild type.Amer. J. Rontgenol. 91, 602.
Jansen, M. (1934). Uber atypische chondro-dystrophie (achondroplasia) and uber eine noch nicht beschriebene angeborene wachstungstorung des knochenosystens: Metaphysare dysostosis.Ztschr. f. orthop. chir. 61, 253.
McKusick, V. A. (1964). Metaphyseal dysostosis and thin hair: a new recessively inherited syndrome.Lancet,1, 832.
Moraneo Robins, M., Stewens, H. F. and Linker, A. (1963). Morquio's disease: an abnormality of mucopolysaccharide metabolism.J. Pediat. 62, 881.
Peterso, J. C. (1962). Metaphyseal dysostosis: questionably a form of vitamin D resistant rickets.J. Pediat. 60, 656.
Rosenbloom, A. L., and Smith, D. W. (1965). The natural history of metaphyseal dysostosis.J. Pediat. 66, 859.
Rask, M. R. (1963). Morquio-Brailsford osteochondrodystrophy and osteogenesis imperfecta: report of a patient with both conditions.J. Bone & Joint Surg. 45A, 561.
Schmidt, B. J., Becak, W., Becak, M. L., Soibelman, I., de Silva Queiroz, A., Lorga A. P., Secaf, F., Antonior, C. F. and de Andrade Carvaldo, A. (1963). Metaphyseal dysostosis.J. Pediat. 63, 106.
Vaandrager, G. I. (1960). Metafysaire dysostosis.Ned. T. Gnnecsk. 100, 547.
Weil, S. (1957). Die metaphysaren dysostosen.Ztschr. Orthop. 89, 1.