Isolated facial hemihyperplasia: manifestation of Beckwith-Wiedemann syndrome.
Facial asymmetry is a common finding in infants and can be the result of a number of distinctive conditions such as hemifacial microsomia, overgrowth syndromes, a soft tissue tumor, and a vascular malformation. However, overgrowth syndromes such as Beckwith-Wiedemann syndrome (BWS) typically manifest more extensive involvement; it rarely presents as isolated facial overgrowth.Here, we present a 7-year-old boy who presented with facial asymmetry. He was found to have isolated facial hemihyperplasia, involving his right cheek and teeth. No abnormalities were seen in the rest of his examination. The diagnosis of BWS was considered and was confirmed by detection of a methylation abnormality in H19 (DMR1). This case demonstrates that BWS should be considered, even with isolated facial involvement. This is important, as affected patients are predisposed to certain malignancies, especially in the first 5 to 8 years of life. Therefore, specialized surveillance is recommended as the part of management.
Sathienkijkanchai
Achara
A
Department of Genetics, University of Alabama at Birmingham, 1530 3rd Avenue South, Birmingham, AL 35294, USA.
Prucka
Sandra K
SK
Grant
John H
JH
Robin
Nathaniel H
NH
D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D003937:Diagnosis, Differential; D005146:Facial Asymmetry / Q000175:diagnosis*; D006801:Humans; D006965:Hyperplasia; D008297:Male; D008780:Methyltransferases / Q000235:genetics
D008780:Methyltransferases; C415968:demethylrapamycin methyltransferase