Underdiagnosed Beckwith-Wiedemann syndrome among early onset obese children

Periodical abdominal ultrasonographic survey and plasma α fetoprotein level determination during infancy and childhood must be done.1 2 Table 1 Clinical features of patients (both females of European ancestry), with respect to the clinical criteria of BWS Patient 1 Patient 2 Chronological age at fir...

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Veröffentlicht in:Archives of disease in childhood 2014-10, Vol.99 (10), p.965-967
Hauptverfasser: Martos-Moreno, Gabriel Á, Serra-Juhé, Clara, Pérez-Jurado, Luis A, Argente, Jesús
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Sprache:eng
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Zusammenfassung:Periodical abdominal ultrasonographic survey and plasma α fetoprotein level determination during infancy and childhood must be done.1 2 Table 1 Clinical features of patients (both females of European ancestry), with respect to the clinical criteria of BWS Patient 1 Patient 2 Chronological age at first examination 7.84 years 8.33 years Birth weight −0.43 SDS +1.94 SDS Age at the onset of obesity 4.5 years 1 year Bone age at first examination (G&P) 7.25 years 10 years Ethnic group Caucasian Caucasian Sex Female Female Pubertal stage Tanner I Tanner I BMI 26.10 kg/m2 (+3.55 SDS) 36.58 kg/m2 (+8.58 SDS) Whole body fat (DXA) 18 612 g (42.5%; +3.15 SDS) 37 078 g (44.8%; +3.19 SDS) Height 130.7 cm (+0.91 SDS) 139.8 cm (+2.27 SDS) Target height 169.0 cm (+1.35 SDS) 162.1 cm (+0.15 SDS) Fasting glucose (mg/dL) 78 89 Fasting insulin (µU/mL) 16.0 16.3 HOMA index 3.08 3.58 HbA1c 5.2% 5.6% Dyslipidaemia No HDL
ISSN:0003-9888
1468-2044
DOI:10.1136/archdischild-2014-307097