Silver Russell Syndrome (SRS) is a rare condition (1/3000 - 1/100,000 newborns). We present a female infant with SRS, cardiac malposition and asymmetric enlargement of the clitoris. She is the first child of Greek nonconsanguinous parents, born at 38 weeks gestation, following in vitro fertilisation (IVF). The patient had intrauterine growth retardation, body asymmetry, enlarged clitoris, hemih...

Neurofibromatosis type 1 (NF1) is a relatively frequent mucocutaneous syndrome, which is transmitted as an autosomal dominant trait or which may represent neomutation. It is characterized by a variety of clinical manifestations, including multiple neurofibromas that are associated with a high risk of sarcomatous transformation. The aim of this report was to elucidate the orofacial manifestation...

BACKGROUND Isolated hyperinsulinaemic hypoglycaemia (HH) commonly results from recessively inherited mutations in the ABCC8 and KCNJ11 genes that are located on chromosome 11p15.1. More rarely, HH can feature in patients with Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder, resulting from defects at a differentially methylated region telomeric to the K-ATP channel genes at c...

Klippel-Trenaunay syndrome (KTS) is a rare and sporadic disorder characterized by the triad of capillary malformations, venous varicosities, and limb hypertrophy. The clinical manifestations of KTS are heterogeneous. In this report, we present a unique case of KTS in combination with congenital dislocation of the hip (CDH) in a 4-day-old female neonate. The patient had a widespread port-wine st...

Congenital overgrowth disorders of the lower extremity have been rarely reported in podiatric literature. Since the 1980s, however, advancements in genetics and diagnostic imaging have allowed for a better understanding of these conditions. The etiologies of overgrowth conditions are largely unknown. Although overgrowth conditions are highly variable, clinically, these patients present similarl...

We present a case of focal nodular hyperplasia (FNH) of the liver in a 7-year-old girl. The hepatic tumor was found incidentally on physical examination at school. During surgery, a hypervascular mass with a nodular surface was found to be confined to the right lobe of the liver (mainly in segments 5 and 6). The brownish tumor and the gallbladder were completely removed. Pathologic examination ...

BACKGROUND Children with overgrowth syndromes including isolated hemihyperplasia have an increased risk for developing embryonal tumors, particularly Wilms' tumor and hepatoblastoma. Screening with sonography has been suggested as a method of identifying these tumors while they are still at an early stage. CASE PRESENTATION We describe an infant diagnosed with Wilms tumor in whom isolated hem...