RESUMEN
A case of Varadi-Papp syndrome in a 3-year-old boy whose case has been followed from 8 months of age is described.
Asunto(s)
Anomalías Múltiples/patología , Polidactilia/patología , Encéfalo/anomalías , Preescolar , Cara/anomalías , Humanos , Lactante , Masculino , Hipotonía Muscular/patología , Desempeño Psicomotor , SíndromeAsunto(s)
Alopecia/genética , Alopecia/patología , Epilepsia/genética , Discapacidad Intelectual/genética , Adulto , Preescolar , Femenino , HumanosRESUMEN
Sotos syndrome is characterized by peculiar facies, prenatal and postnatal overgrowth, and developmental delay. The course of six patients with psychiatric, neurologic, and magnetic resonance imaging evaluations is reported. Three (50%) of the six patients were observed to have a tendency toward aggressiveness, including one who had pyromania.
Asunto(s)
Agresión , Encéfalo/anomalías , Discapacidades del Desarrollo/psicología , Trastornos del Crecimiento/psicología , Niño , Preescolar , Discapacidades del Desarrollo/diagnóstico , Femenino , Trastornos del Crecimiento/diagnóstico , Humanos , Imagen por Resonancia Magnética , MasculinoRESUMEN
We studied a patient with microcephaly, short stature, type B brachydactyly, nail dysplasia, skeletal anomalies, and mental retardation. The mother of the propositus has brachydactyly of thumbs and a similar physiognomy without mental retardation. This appears to be another observation of the Tonoki syndrome, a distinct autosomal dominant or X-linked clinical entity.
