Median nodule of the upper lip: an autosomal dominant trait.
We describe a total of 18 individuals, in 3 families, with a median nodule of the upper lip. In family 1, the proposita, an 8-month-old infant girl, was otherwise phenotypically normal except for a median nodule of the upper lip. The proposita's elder brother and mother, both phenotypically normal, also had the similar nodule of the upper lip. On the mother's side, the proposita's greatgrandmother, greatgrandaunt, grandfather, greataunt, two aunts, and one female cousin all had a median nodule of the upper lip. In family 2, the proposita, proposita's mother and maternal grandfather had a median nodule of the upper lip. In family 3, the proposita, proposita's father, paternal grandfather, paternal uncle, and cousin had a median nodule of the upper lip. Analysis of 3 families indicates that the condition is an autosomal dominant trait.
Tsukahara
M
M
Department of Pediatrics, Yamaguchi University School of Medicine, Ube, Japan.
Fernandez
I
I
Sugio
Y
Y
Shiota
K
K
D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008046:Lip / Q000002:abnormalities*; D008297:Male; D010375:Pedigree