[Clinical study of neurofibromatosis type 1].
BACKGROUND
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.


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.


CONCLUSIONS
Suspicion of this condition, together with laboratory investigations led to the conclusion that the cases were neurofibromatosis.
Lozada
Y
Y
Departamento Provincial de Genética Clínica, Hospital Infantil Sur, Santiago de Cuba, Cuba.
Alvarez-Valiente
H
H
Argüelles
M
M
D000293:Adolescent; D000328:Adult; D019080:Cafe-au-Lait Spots / Q000453:epidemiology / Q000209:etiology; D002648:Child; D002675:Child, Preschool; D003462:Cuba / Q000453:epidemiology; D003952:Diagnostic Imaging; D004392:Dwarfism / Q000453:epidemiology / Q000209:etiology; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000453:epidemiology / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D008548:Melanosis; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000453:epidemiology / Q000473:pathology; D012600:Scoliosis / Q000453:epidemiology / Q000209:etiology; D014057:Tomography, X-Ray Computed
Estudio clínico de la neurofibromatosis tipo 1.