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28 results

  1. Holoprosencephaly Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1530
    ... Evaluation Strategies to Identify the Genetic Cause of Holoprosencephaly in a Proband Genetic Counseling Resources Chapter Notes References Bulk Download Bulk download GeneReviews data from FTP ...
  2. Brain Malformations 
    https://medlineplus.gov/brainmalformations.html
    Brain malformations is damage or abnormal development of the brain and nervous system. Starts long before a baby is born. Learn types and treatments. ... Most ...
  3. FGFR1-Related Hartsfield Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK349073
    ... in individuals with the following two core features: Holoprosencephaly (HPE) spectrum disorder. The spectrum results from failed ... in particular intracranial and spinal lipomas. Differential Diagnosis Holoprosencephaly (HPE). See Holoprosencephaly Overview . Ectrodactyly, ectodermal dysplasia, cleft ...
  4. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... Hartsfield-Bixler-Demyer syndrome</other_name><other_name >Holoprosencephaly and split hand/foot syndrome</other_name><other_name >Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate</other_name>< ...
  5. PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK573670
    ... variable, with the most severe belonging to the holoprosencephaly spectrum and associated with moderate-to-profound intellectual ... imaging demonstrating: Alobar, semilobar, or middle interhemispheric variant holoprosencephaly Abnormalities of the corpus callosum Anencephaly Cortical dysplasia ( ...
  6. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... 207.325 Donohue Syndrome C05.660.207.410 Holoprosencephaly C05.660.207.525 LEOPARD Syndrome C05.660. ... 034.687 Aicardi Syndrome C10.500.034.875 Holoprosencephaly C10.500.142 Central Nervous System Cysts C10. ...
  7. Smith-Lemli-Opitz Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1143
    ... or cerebellum Dandy-Walker malformation and its variants Holoprosencephaly (5%) [ Weaver et al 2010 ] Skin. Photosensitivity, which ... findings are indicated in parentheses): Trisomy 13 syndrome (holoprosencephaly, cleft lip and cleft palate, cardiac defects, polydactyly) ...
  8. Strømme Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK586170
    ... may reveal corpus callosum agenesis, hydrocephalus, pachygyria, lissencephaly, holoprosencephaly, cerebral and cerebellar hypoplasia. Abdominal imaging findings may ...
  9. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... 387. Bixler D, Ward R, Gale DD. Agnathia-holoprosencephaly: a developmental field complex involving face and brain. ... 502. Elias DL, Kawamoto HK Jr., Wilson LF. Holoprosencephaly and midline facial anomalies: redefining classification and management. ...
  10. Donnai-Barrow Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1878
    ... anomalies, including agenesis of corpus callosum and mild holoprosencephaly (not reported in individuals with DBS) [ Christ et ... TE, Christ A. Endocytic receptor LRP2/megalin - of holoprosencephaly and renal Fanconi syndrome. Pflugers Arch. 2017;469: ...
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