Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.
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.
Numakura
Chikahiko
C
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan. cnumakur@med.id.yamagata-u.ac.jp
Kitanaka
Sachiko
S
Kato
Mitsuhiro
M
Ishikawa
Shigeo
S
Hamamoto
Yoshioki
Y
Katsushima
Yuriko
Y
Kimura
Toshiyuki
T
Hayasaka
Kiyoshi
K
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
C527782:SOX2 protein, human; D055748:SOXB1 Transcription Factors