Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome
| Autor: | Toshiyuki Kimura, Mitsuhiro Kato, Yoshioki Hamamoto, Sachiko Kitanaka, Chikahiko Numakura, Shigeo Ishikawa, Yuriko Katsushima, Kiyoshi Hayasaka |
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| Rok vydání: | 2010 |
| Předmět: |
Male
medicine.medical_specialty Developmental Disabilities Microphthalmia Young Adult stomatognathic system Hypogonadotropic hypogonadism Oral and maxillofacial pathology Anophthalmos Genetics medicine Deciduous teeth Humans Microphthalmos Supernumerary Genetics (clinical) Anophthalmia Cleidocranial Dysplasia business.industry SOXB1 Transcription Factors Tooth Impacted Anatomy medicine.disease Dermatology eye diseases stomatognathic diseases medicine.anatomical_structure Tooth Supernumerary embryonic structures sense organs business |
| Zdroj: | American Journal of Medical Genetics Part A. :2355-2359 |
| ISSN: | 1552-4825 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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