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[Clinical study of neurofibromatosis type 1]
Y Lozada1, H Alvarez-Valiente, M Argüelles
1Departamento Provincial de Genética Clínica, Hospital Infantil Sur, Santiago de Cuba, Cuba.
Revista De Neurologia
|December 22, 1998
Abstract
Introduction:
Recklinghausen's disease is considered to be the autosomal dominant disorder with the highest rate of mutation after achondroplasia. It is a neuroectodermal disorder with considerable clinical effects.
Patients And Methods:
We present a study of 14 patients seen for café-au-lait spots in the Clinical Genetics Department of the Hospital Infantil Sur. A detailed questionnaire and physical examination was done to obtain a clinical outline.
Conclusion:
Suspicion of this condition, together with laboratory investigations led to the conclusion that the cases were neurofibromatosis.