h_kaishi
Online edition:ISSN 2758-089X

t_toukou

Basal Cell Nevus Syndrome with Abnormal Karyotype ― Report of a Case and Genetic Pedigree

A 17-year-old girl was admitted to our hospital because of painful swelling in the right mandibular region. Her family history showed basal cell nevus syndrome (BCNS) with multiple jaw cysts in four family members. The patient had a rather broad-based nose, mild ocular hypertelorism, peculiar pits of the hands and ankyloglossia. Roentgenographic examination revealed two well-defined cystic radiolucencies with impacted third molars in both mandibular molar regions. No other osseous abnormalities were noted. Chromosome examination showed a small deletion in the long arm of the No. 9 chromosome (mos46,XX/46,XX,del(9)(q32)). A final diagnosis of BCNS with multiple odontogenic keratocysts was made and enucleations of the cysts were performed. By a review of literature, the significance of multiple odontogenic keratocysts is discussed.

著者名
Hata T, et al
22
2
101-107
DOI
10.11482/KMJ-E22(2)101-107.1996.pdf

b_download