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    Genet Couns. 1992;3(2):67-76.

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

    Source

    División de Genética, Instituto Mexicano de Seguro Social, Guadalajara, Jalisco.

    Abstract

    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.

    PMID:
    1642813
    [PubMed - indexed for MEDLINE]

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