Predisposing syndromes associated with an increased risk of Wilms tumor (WT) are
responsible for 9–17% of all cases of the malignancy. Due to an earlier age at WT diagnosis …

Isolated hemihyperplasia, formerly termed isolated hemihypertrophy, is a congenital
overgrowth disorder associated with an increased risk for embryonal tumors, mainly Wilms …

Macroglossia is observed in the majority of paediatric patients diagnosed with Beckwith–
Wiedemann syndrome and surgical treatment may be indicated. A 20-year retrospective …

Bohring–Opitz syndrome is a rare genetic condition characterized by distinctive facial
features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual …

Renal masses in children may be discovered during routine clinical examination or
incidentally during the course of diagnostic or therapeutic procedures for other causes …

Here we describe three subjects with mosaic genome‐wide paternal uniparental isodisomy
(GWpUPD) each of whom presented initially with overgrowth, hemihyperplasia (HH), and …

α-Fetoprotein (AFP) measurements have clinical implications in fetal medicine and, in
infants and older children, in detection, differential diagnosis and monitoring of malignant …

Macrocephaly is a relatively common clinical condition affecting up to 5% of the pediatric
population. It is defined as an abnormally large head with an occipitofrontal circumference …

Background To expand the current knowledge of DICER1 syndrome and to propose criteria
for genetic testing based on experience at a pediatric tertiary care center. Procedure This …

Abstract Beckwith–Wiedemann Syndrome (BWS) is an overgrowth syndrome caused by a
variety of molecular changes on chromosome 11p15. 5. Children with BWS have a …