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.
Martínez y Martínez
R
R
División de Genética, Instituto Mexicano de Seguro Social, Guadalajara, Jalisco.
Martínez-Carboney
R
R
Ocampo-Campos
R
R
Rivera
H
H
Gómez Plascencia y Castillo
J
J
Cuevas
A
A
Martín Manrique
M C
MC
D000293:Adolescent; D000886:Anthropometry; D001506:Beckwith-Wiedemann Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D008800:Mexico; D010641:Phenotype; D012307:Risk Factors; D014057:Tomography, X-Ray Computed