2017, Number 622
Displasia espondiloepifisiaria tipo cantú: reporte de caso
Language: Spanish
References: 9
Page: 7-11
PDF size: 105.63 Kb.
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 characteristicsREFERENCES
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.
Le Goff, C., Mahaut, C., Wang, L. W., Allali, S., Abhyankar, A., Jensen, S., Zylberberg, L., Collod-Beroud, G., Bonnet, D., Alanay, Y., Brady, A. F., Cordier, M.-P., and 27 others. Mutations in the TGF-beta bindingprotein- like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am. J. Hum. Genet. 2011: 89, 7-14.