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9 results

  1. Oculodentodigital dysplasia 
    https://medlineplus.gov/.../condition/oculodentodigital-dysplasia
    ... but they typically do not show signs and symptoms of the condition. Fewer than ten cases of ... Oculodentodigital syndrome Oculodentoosseous dysplasia ODD syndrome ODDD ODOD Osseous-oculo- ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... synonym><synonym >Oculodentodigital dysplasia, autosomal recessive</synonym><synonym >Oculodentodigital syndrome</synonym><synonym >Oculodentodigitalis dysplasia</synonym><synonym >Oculodentoosseous dysplasia</ ...
  3. Trichorhinophalangeal Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK425926
    ... nostrils Thickened skin Absence of sparse hair GJA1 Oculodentodigital syndrome (OMIM 164200 & 257850 ) AD AR Slow-growing, dry ... to the diagnosis) are recommended. Table 5. Trichorhinophalangeal Syndrome: Recommended Evaluations ... in own window System/Concern Evaluation Comment ...
  4. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... Oculodentodigital dysplasia, autosomal recessive</other_name><other_name >Oculodentodigital syndrome</other_name><other_name >Oculodentodigitalis dysplasia</other_name>< ...
  5. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... 60. X-1. [ PubMed : 22140667 ] 1256. Burning mouth syndrome diagnosis. Dental Abstracts. 2012; 57 (6):313–4. PMID: ... V, Stewart JM Jr., et al. Ankyloglossum superius syndrome: diagnosis and surgical management. J Craniofac Surg. 2007 Sep; ...
  6. PLP1-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1182
    ... can present with pure hypomyelination, similar to PMD. Oculodentodigital dysplasia presents sometimes in adulthood, with a SPG-like phenotype ; nystagmus is usually not present [ Harting et al 2019 ]. (For MRI characteristics and differential diagnosis of hypomyelination see also Steenweg et al [2010] ...