[Wiedemann-Beckwith syndrome. Study of an oligosymptomatic form].
An infant with an incomplete expression of Wiedemann-Beckwith syndrome during the neonatal period was suspected to suffer from hypothyroidism. However, after exclusion of this tentative diagnosis the phenotypic characteristics lead to the correct diagnosis. In addition to the macroglossia, the typical facial signs of this syndrome such as capillary haemangioma of the glabella, soft tissue folds under the eyes and linear indentations of the ear lobes are demonstrable. Gigantism and umbilical hernia are absent. A tendency to hypoglycaemia and the increased risk of malignancy are the important aspects of this syndrome, which may be expressed in a variety of clinical forms. So far the aetiology of this syndrome is unknown although familial cases implicate the involvement of genetic factors.
D000015:Abnormalities, Multiple / Q000235:genetics; D003937:Diagnosis, Differential; D005877:Gigantism / Q000235:genetics*; D006554:Hernia, Umbilical / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008260:Macroglossia / Q000235:genetics*; D008297:Male; D013577:Syndrome
Das Wiedemann-Beckwith-Syndrom. Beobachtung einer oligosymptomatischen Form.