NDLI: Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.

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Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.

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Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Numakura, Chikahiko Kitanaka, Sachiko Kato, Mitsuhiro Ishikawa, Shigeo Hamamoto, Yoshioki Katsushima, Yuriko Kimura, Toshiyuki Hayasaka, Kiyoshi
Description	Country affiliation: Japan Author Affiliation: Numakura C ( Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan. cnumakur@med.id.yamagata-u.ac.jp)
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.
File Format	HTM / HTML
ISSN	15524825
Issue Number	9
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-09-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Anophthalmos Genetics Soxb1 Transcription Factors Tooth, Impacted Tooth, Supernumerary Complications Developmental Disabilities Humans Male Microphthalmos Young Adult Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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