hrp0095p2-180 | Growth and Syndromes | ESPE2022

Beckwith-Wiedemann Syndrome: three case reports

Moscoso Joana , Cirurgião Filipa , Dias Joana , Laura Fitas Ana , Diamantino Catarina , Pina Rosa , Lopes Lurdes

Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder, occurring in 1/13,700 births. BWS is usually sporadic, but 15% of cases are familial. Variable phenotype may include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, lateralized overgrowth and predisposition to embryonal tumors. We describe three male cases of BWS followed at our clinic.Case 1: Born of a gestation complicated by gestational diabetes. Del...

hrp0097p2-278 | Late Breaking | ESPE2023

Endocrine dysfunction in Charge Syndrome – short case series

Costa Cristiana , Laura Fitas Ana , Diamantino Catarina , Lopes Patrícia , Limbert Catarina , Lopes Lurdes

Introduction: CHARGE syndrome is a rare constellation of congenital malformations caused by mutations in CHD7 gene. The acronym stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities, and/or hearing loss. Endocrine disorders associated with this syndrome include hypogonadotropic hypogonadism, ...