The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.
We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases.
Tekin
Mustafa
M
Division of Pediatric Genetics, Ankara University School of Medicine, Dikimevi, Ankara, Turkey. mtekin@medicine.ankara.edu.tr
Kavaz
Asli
A
Berberoğlu
Merih
M
Fitoz
Suat
S
Ekim
Mesiha
M
Ocal
Gönül
G
Akar
Nejat
N
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities*; D002648:Child; D002658:Developmental Disabilities / Q000473:pathology*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014071:Tooth Abnormalities; D014421:Turkey