Citation, DOI, disclosures and article data
Citation:
Prabhu S, Luong D, Shetty A, et al. Otopalatodigital syndrome type I. Reference article, Radiopaedia.org (Accessed on 19 Mar 2024) https://doi.org/10.53347/rID-23291
Otopalatodigital syndrome type I is a rare genetic disorder characterized by:
- skeletal dysplasia
- hearing loss
- cleft palate
- and a characteristic face (with hypertelorism, broad nasal root, prominent supraorbital ridges, small flat nose and downslanted palpebral fissures).
It is a member of a group of related conditions called otopalatodigital spectrum disorders that also include:
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1. Robertson SP. Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome. Eur. J. Hum. Genet.;15 (1): 3-9. doi:10.1038/sj.ejhg.5201654 - Pubmed citation
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