KBG syndrome: review of the literature and findings of 5 affected patients.
KBG syndrome is a rare, multiple congenital anomaly/mental retardation (MCA/MR) syndrome characterized by neurological disturbance, short stature, a distinct craniofacial appearance, and skeletal anomalies. It is likely to be autosomal dominant in nature with a wide range of expressivity in its clinical features. Dentally, macrodontia, particularly of the maxillary permanent central incisors is a common finding. The aim of this article was to review the familiar clinical presentations of this syndrome and to highlight previously unreported findings of generalized macrodontia and shovel-shaped incisors. Dental and clinical findings of 2 affected brothers with a 3-year follow-up of their dental progress following orthodontic treatment are outlined. Additionally, dental and clinical findings of an affected mother and her daughter, and another sporadic case are also presented.
Kumar
Harleen
H
Department of Pediatric Dentistry, Westmead Hospital, Sydney, Australia.
Prabhu
Neeta
N
Cameron
Angus
A
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology*; D004392:Dwarfism / Q000473:pathology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007180:Incisor / Q000002:abnormalities*; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology*; D008297:Male; D008311:Malocclusion, Angle Class I / Q000473:pathology; D008312:Malocclusion, Angle Class II / Q000473:pathology; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics / Q000473:pathology*; D055815:Young Adult