Beckwith-Wiedemann syndrome: prenatal ultrasound diagnosis using standard kidney to abdominal circumference ratio.
Enlarged fetal kidneys are characteristic of more than one possible diagnosis. Though infantile polycystic kidney disease is probably the most well known entity and is associated with oligohydramnios, Beckwith-Wiedemann syndrome should be considered in the differential diagnosis especially if a normal or increased amount of amniotic fluid is present. The presence of an omphalocele with a normal karyotype should also arouse suspicion. This constellation of findings carries potential morbidity including macrosomia, fetal hypoglycemia, mental retardation, microcephaly, increased risk of subsequent neoplasia, and even neonatal death. Beckwith-Wiedemann syndrome may not be obvious in the newborn period.
D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005314:Embryonic and Fetal Development; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000196:embryology*; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D014463:Ultrasonography