The KBG syndrome.
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.
Smithson
S F
SF
Department of Clinical Genetics, Institute of Child Health, Bristol Children's Hospital, UK.
Thompson
E M
EM
McKinnon
A G
AG
Smith
I S
IS
Winter
R M
RM
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