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24 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. 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) ...
  7. 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 ...
  8. Congenital Diaphragmatic Hernia Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1359
    ... cleft palate) Growth deficiency ID Trisomy 13 + IUGR, holoprosencephaly, scalp defects, CLP, cardiac defects, polydactyly High mortality ... 424:53-65. Epub 2013 May 10. Review Holoprosencephaly Overview. [GeneReviews(®). 1993] Review Holoprosencephaly Overview. Tekendo-Ngongang ...
  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. Nevoid Basal Cell Carcinoma Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1151
    ... SUFU have been reported in individuals with nonsyndromic holoprosencephaly (HPE). However, because investigations of several large HPE ... role of these genes in HPE pathogenesis. (See Holoprosencephaly Overview .) Differential Diagnosis Table 3. Genes of Interest ...
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