title: Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.
abstract: SOX2 anophthalmia syndrome characteristically presents as anophthalmia or microphthalmia, with various extraocular symptoms, such as hypogonadotropic hypogonadism, brain anomaly, and esophageal abnormalities. In this report, we describe a patient with SOX2 anophthalmia syndrome complicated with a dental anomaly, multiple supernumerary impacted teeth, and persistence of deciduous teeth. Multiple supernumerary teeth are usually not solitary symptoms, but indicate systemic syndrome such as cleidocranial dysplasia. In odontogenesis, many transcriptional factors, such as BMPs, FGFs, and Wnts, play significant roles and SOX2 is known to interact with some of them. The role of SOX2 in dental development remains unknown, however, multiple supernumerary teeth can be considered as extraocular symptoms of SOX2 anophthalmia syndrome, rather than the coincidence of two rare diseases.
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan. cnumakur@med.id.yamagata-u.ac.jp
authors.forename: Chikahiko
authors.initials: C
authors.lastname: Numakura
authors.forename: Sachiko
authors.initials: S
authors.lastname: Kitanaka
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Kato
authors.forename: Shigeo
authors.initials: S
authors.lastname: Ishikawa
authors.forename: Yoshioki
authors.initials: Y
authors.lastname: Hamamoto
authors.forename: Yuriko
authors.initials: Y
authors.lastname: Katsushima
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Kimura
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Hayasaka
mesh_terms: D000853:Anophthalmos / Q000150:complications / Q000235:genetics*; D002658:Developmental Disabilities; D006801:Humans; D008297:Male; D008850:Microphthalmos; D055748:SOXB1 Transcription Factors / Q000235:genetics*; D014095:Tooth, Impacted / Q000235:genetics*; D014096:Tooth, Supernumerary / Q000235:genetics*; D055815:Young Adult
chemical_list: C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors