Development of the Serum α-Fetoprotein Reference Range in Patients with Beckwith-Wiedemann Spectrum

Elevated maternal serum α-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in the second trimester of pregnancy.

BACKGROUND Beckwith-Wiedemann syndrome (BWS) is a rare disorder characterized by macrosomia, macroglossia, visceromegaly, and omphalocele and an increased risk of growing tumors. Prenatal and postnatal high levels of serum alpha-fetoprotein are associated with several diseases and neoplasms including hepatoblastomas and other hepatic tumors. The diagnosis of BWS is usually made in the postnatal...

Sonographic Assessment of Renal Growth in Patients with Beckwith-Wiedemann Syndrome: The Beckwith-Wiedemann Syndrome Renal Nomogram

BACKGROUND Beckwith-Wiedemann syndrome is a disorder of somatic overgrowth. Evidence of kidney overgrowth is a diagnostic criterion that may be used to help identify those patients who are at the greatest risk of developing Wilms tumors. In such subjects, kidney size is typically larger than that of age-matched normal controls. OBJECTIVE The purpose of our study was to generate a nomogram tha...

CDKN1C expression in Beckwith-Wiedemann syndrome patients with allele imbalance.

In this study, we have examined CDKN1C expression in BWS patients with allele imbalance (AI) affecting the 11p15 region. Two of two informative patients with AI, attributable to mosaic paternal isodisomy, exhibited reduced levels of CDKN1C expression in the liver and kidney, respectively, relative to expression levels in the equivalent tissues in normal controls. Although overall expression was...

[Beckwith-Wiedemann syndrome].

Beckwith-Wiedemann syndrome.

some llp15.3-.pter and monosomic for chromosome 5p15.3-.pter (karyotype 46,XY,der(5)t(5;ll)(pl5.3;pl5.3)pat). Paternally derived duplications of llpl5.5 are associated with Beckwith-Wiedemann syndrome (BWS) and both family members trisomic for llpl5.5 had prenatal overgrowth (birth weights >97th centile), macroglossia, coarse facial features, and broad hands. We review the clinical features of ...