hrp0098p3-154 | Growth and Syndromes | ESPE2024

An unusual association of Beckwith-Wiedemann syndrome with congenital hypothyreosis, cutaneous haemangiomas and diaphragmatic eventration

Ramosaj Morina Atifete , Krasniqi Elida , Keka Sylaj Alije , Baloku Zejnullahu Arbana

Beckwith-Wiedemann syndrome is a congenital imprinting condition with a heterogenous clinical presentation of overgrowth and an increased childhood cancer risk. Hemangiomas are a rare presentation, while association with diaphragmatic eventration and congenital hypothyroidism was reported even more rarely. This case highlights the presence of some rare anomalies which may be associated with BWS.Case presentation: Personal and disease his...