D ercole syndrome


D ercole syndrome: A very rare syndrome characterized mainly by short stature, small head and heart defects.


* Heart defect * Auricular septal defect * Short stature * Small head * Retarded fetal growth


* BWS pathogenesis involves disrupted imprinting of one or more genes because the sex of the transmitting parent determines the pattern and risk of transmission in familial cases. * Maternal transmission is associated with dramatically greater penetrance. * * Duplications of band 11p15.5 in patients with BWS are always derived from the patient's father, whereas translocations and inversions are invariably derived from the patient's mother. Approximately 15% of patients with BWS cluster in families; the remainder are sporadic. * Most patients with sporadic BWS lack apparent cytogenetic abnormalities; however, about 2% carry inversions, duplications, or translocations involving distal chromosome arm 11p. * * At least 20% of sporadic cases manifest paternal uniparental disomy (UPD) for band 11p15.5, resulting from postzygotic mitotic recombination and mosaic paternal isodisomy. * * Patients with BWS and UPD, BWSIC1 mutations or 11p duplications lack exomphalos, whereas BWSIC2 mutations are commonly associated with exomphalos.