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Colegio de Medicos y Cirujanos República de Costa Rica
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2017, Number 622

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Rev Med Cos Cen 2017; 84 (622)

Displasia espondiloepifisiaria tipo cantú: reporte de caso

Soto BAP, Marín MA
Full text How to cite this article

Language: Spanish
References: 9
Page: 7-11
PDF size: 105.63 Kb.


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ABSTRACT

Spondylampheid dysplasia Cantu type is a rare disease with an autosomal dominant inheritance pattern. We present two cases of siblings with clinical and radiological characteristics of this disease, initially sent to the Genetic clinic with a diagnosis of low stature in the study, it is worth mentioning that the father has similar clinical characteristics


REFERENCES

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  2. Cantú J.M.: El Síndrome de la ‘Isla de la Fantasia’. Individualizacion de una nueva osteocondro-displasia probablemente autosomica dominante. Gac. Med. Mex., 1995, 131(1), 23-26.

  3. Faivre, L., Le Merrer, M., Baumann, C., Polak, M., Chatelain, P., Sulmont, V., Cousin, J., Bost, M., Cordier, M. P., Zackai, E., Russell, K., Finidori, G., Pouliquen, J. C., Munnich, A., Maroteaux, P., Cormier-Daire, V. Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J. Med. Genet. 2001: 38, 745-749.

  4. Maroteaux, P., Stanescu, R., Stanescu, V., Rappaport, R. Acromicric dysplasia. Am. J. Med. Genet. 1986: 24, 447-459.

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  6. Koiffmann, C. P., Wajntal, A., Ursich, M. J. M., Pupo, A. A. Familial recurrence of geleophysic dysplasia. Am. J. Med. Genet. 1984: 19, 483-486.

  7. Shohat, M., Gruber, H. E., Pagon, R. A., Witcoff, L. J., Lachman, R., Ferry, D., Flaum, E., Rimoin, D. L. Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and trachea. J. Pediat. 1990: 117, 227-232.

  8. Moore, W. T., Federman, D. D. Familial dwarfism and ‘stiff joints’. Arch. Intern. Med. 1965: 115, 398- 404.

  9. García Cruz D,. Zafra de la Rosa G.F, Sánchez Corona J , Nazara Z., López Cardona M.G., García Ortiz J.E., Corona Rivera J.R., Cantú J.M.. SED-brachydactyly and distinctive speech: Report of two new cases. Genetic Counseling. Vol. 18, No 1, 2007, pp 85-97.




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Rev Med Cos Cen. 2017;84