[Seckel syndrome. Report of a case].
The paper report a case of Seckel's syndrome in a girl aged 7 years and 2 months who was referred to the authors attention due to abdominal colic. Low birth weight together with a significant delay in weight and stature increase, microcephalia with the typical bird head and considerable mental retardation were sufficient to diagnose the syndrome. Interesting analogies were observed with another case of a patient with Seckel's syndrome born to an epileptic mother receiving antiepileptic treatment which was suspended during the second month of gestation. In the case presented here, no drugs were taken during pregnancy although the mother had received antiepilepsy treatment for years.
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Divisione di Pediatria, USSL n. 61, Carate Brianza Milano.
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D000015:Abnormalities, Multiple / Q000235:genetics*; D001827:Body Height; D002648:Child; D005260:Female; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008831:Microcephaly / Q000150:complications / Q000235:genetics; D011247:Pregnancy; D011596:Psychomotor Disorders / Q000150:complications* / Q000235:genetics; D013577:Syndrome
La sindrome di Seckel. Presentazione di un caso.