Incomplete forms of Beckwith-Wiedemann syndrome: report of a case.
Beckwith-Wiedemann syndrome is a rare disease characterized by a constellation of congenital and time-dependent abnormalities such as defects of the abdominal wall, gigantism, craniofacial dysmorphism, visceromegaly and hemihypertrophy. The syndrome is divided into complete and incomplete forms and, as it may only have subtle phenotypic features, it is easily neglected by clinicians. Patients with this syndrome, particularly those associated with hemihypertrophy, have a high risk of growing malignant tumors. This is a case report of a patient with an incomplete form of this syndrome with left hemihypertrophy, hepatosplenomegaly and a small right adrenal cystic lesion.
Chan
K C
KC
Department of Diagnostic Radiology, Taipei Municipal Chung-Hsiao Hospital, Taiwan, R.O.C.
Cheung
W K
WK
Chen
Y C
YC
D000328:Adult; D001506:Beckwith-Wiedemann Syndrome / Q000150:complications / Q000175:diagnosis / Q000473:pathology; D003266:Continuity of Patient Care; D005260:Female; D006801:Humans; D006984:Hypertrophy; D009369:Neoplasms / Q000150:complications; D010641:Phenotype; D012307:Risk Factors