Çocuk Sağlığı ve Hastalıkları Dergisi
2014 , Vol 57 , Num 2
Beckwith-Wiedemann syndrome
Hacettepe Üniversitesi Tıp Fakültesi 1Pediatri Uzmanı, 2Pediatri Doçenti
*İletişim: drburcakbilgin@gmail.com
Beckwith-Wiedemann syndrome (BWS) is one of the most common overgrowth
syndromes. Cancer predisposition is an important feature of this clinically
heterogeneous syndrome. Patients may have fetal and early childhood
overgrowth, hemihyperplasia, macroglossia, facial dysmorphic features,
abdominal wall defects, visceromegaly, and anomalies of the heart and kidneys.
The molecular pathology in BWS is based on many genetic and epigenetic
alterations, affecting expression of imprinted growth-regulating genes localized
on chromosome 11p15.5. Various previous investigations have shown that
the heterogeneous molecular etiology may contribute to clinical variability,
and genotype-phenotype correlation exists in BWS, like polyhydramnios, large
placenta, prematurity, conception with assisted reproductive techniques, large
birth weight, neonatal hypoglycemia, macrosomia, anterior abdominal wall
defects, macroglossia, facial characteristics, facial nevus flammeus/hemangioma,
anterior ear lobe creases, posterior helical pits, hemihyperplasia, nephromegaly,
visceromegaly, embryonal tumors, abdominorenal ultrasonographic findings,
hypocalcemia, hypoglycemia, hypercholesterolemia, hypothyroidism,
hypercalciuria, and nephrocalcinosis. All patients clinically suggestive of
BWS should be followed with a multidisciplinary approach for all possible
manifestations of the disorder.
Anahtar Kelimeler :
Beckwith-Wiedemann sendromu, genotip-fenotip korelasyonu,
hemihiperplazi, Wilms tümörü, uniparental dizomi.