[The Wiedemann-Beckwith syndrome. Its natural history and levels of prevention]. / El síndrome de Wiedemann-Beckwith. Su historia natural y sus niveles de prevención.

We attempted here the delineation of the natural history of the disease and corresponding prevention levels (NHD and PL) of the Wiedemann-Beckwith syndrome according to the classical model of Leavell and Clark for infectious-contagious diseases. This proposal was based on our own series of 39 patients and our previous reports on the didactics of the NHD and PL model, as well as on the relevant literature; with this approach we obtained an useful model which includes the health-disease status, the analysis of risk factors and the integration of the clinical practice with socio-epidemiological medicine. Furthermore, the NHD and PL model allow the selection of the preventive management depending on the clinical stage, namely health or disease. This approach to a Mendelian condition emphasizes that the Leavell and Clark concepts can be advantageously applied to any genetic disease.

Autosomal dominant macroglossia: an addendum to the etiological classification.

There are multiple causes and classifications of macroglossia. We report a new observation of this entity in a mother and her daughter. Together with our previous report in two Mexican families with autosomal dominant transmission, we now expand the current classification with a new category: autosomal dominant macroglossia.

Wiedemann-Beckwith syndrome: clinical, cytogenetical and radiological observations in 39 new cases.

Thirty-nine patients (82% under 1 year of age) with Wiedemann-Beckwith syndrome (WBS) were prospectively studied. To evaluate the somatometric data the normal range was set out at mean +/- 2 SD. The relevant physical findings were a characteristic face, non increased mean height and weight, normal head circumference, defective abdominal wall, a predominance of the upper segment, and tibial bowing. Mental retardation was documented in 5 cases but in only 1 it was related to hypoglycemia. The 32 cases karyotyped were normal. Since neonatal hypoglycemia is frequent (34.3% in our series) and potentially deleterious for the CNS we propose to monitor the glycemia every 6 h during the first 3 days in WBS newborns in order to correct glycemia below of 2.6 mmol/l (46.8 mg/dl) according to recent studies. The comparison with previous large series enabled us to precise the frequency, onset and evolution of the main stigmata.