Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome.
With the advent of prenatal sonography, fetal overgrowth can be easily detected. Prenatal-onset overgrowth can be secondary to normal variants of familial tall stature, familial rapid maturation, diabetic macrosomia, and congenital nesidioblastosis, or prenatal-onset overgrowth can be primary due to pathological overgrowth disorders. This article provides a comprehensive review of the prenatal findings and the genetic diagnosis of some of the pathological prenatal-onset overgrowth disorders, such as Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome.
Department of Medicine, Mackay Medical College, New Taipei City, Taiwan. cpc_mmh@yahoo.com
Chih-Ping
CP
Chen
D001145:Arrhythmias, Cardiac / Q000175:diagnosis* / Q000235:genetics; D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis* / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D005877:Gigantism / Q000175:diagnosis* / Q000235:genetics; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D011296:Prenatal Diagnosis; D058495:Sotos Syndrome / Q000175:diagnosis* / Q000235:genetics