title: The KBG syndrome.
abstract: We report on two boys with a combination of short stature, a broad face, macrodontia and developmental delay. These features suggest that they have the KBG syndrome, a rare but distinctive phenotype. The pattern of inheritance remains uncertain and both autosomal dominant and X-linked recessive inheritance should be considered in genetic counselling.
authors.affiliation: Department of Clinical Genetics, Institute of Child Health, Bristol Children's Hospital, UK.
authors.forename: S F
authors.initials: SF
authors.lastname: Smithson
authors.forename: E M
authors.initials: EM
authors.lastname: Thompson
authors.forename: A G
authors.initials: AG
authors.lastname: McKinnon
authors.forename: I S
authors.initials: IS
authors.lastname: Smith
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001827:Body Height; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D002658:Developmental Disabilities / Q000175:diagnosis* / Q000235:genetics; D005192:Family Health; D006801:Humans; D008297:Male; D010641:Phenotype; D014071:Tooth Abnormalities / Q000175:diagnosis* / Q000235:genetics