[Neurological changes in Giedion's syndrome (tricho-rhinophalagia type I)].
Seven cases of type I trichorhinophalangeal syndrome which reveal peculiar clinical and radiologic characteristics are presented. Related neurologic findings such as mental and motor retardation in four cases and seizures in three of them, are analyzed. With the exception of three cases in which there was a probable hypoxic-isquemic brain injury, no organic cause could be related to the former findings. Only one of the patients presented no neurologic disorders. Although occasional descriptions of psychomotor retardation and seizures related to Giedion syndrome can be found, until now the relative frequency of neurologic disorders in these patients had not been emphasized.
D002648:Child; D002675:Child, Preschool; D005097:Exostoses, Multiple Hereditary / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D007805:Language Development Disorders / Q000209:etiology; D008297:Male; D010641:Phenotype; D012640:Seizures / Q000209:etiology
Alteraciones neurolgicas en el síndrome de Giedion (trico-rino-falangia tipo I).