Skip to main content
U.S. flag

An official website of the United States government

Search help
37 results
  1. Holoprosencephaly Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1530
    ... Search term GeneReviews Advanced Search Help < Prev Next > Holoprosencephaly Overview Cedrik Tekendo-Ngongang , MD, Maximilian Muenke , MD, ... an individual with holoprosencephaly. 1. Clinical Characteristics of Holoprosencephaly Holoprosencephaly (HPE), the most common malformation of the ...
  2. 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 ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... Hartsfield syndrome is a rare condition characterized by holoprosencephaly, which is an abnormality of brain development, and ... into two halves, the right and left hemispheres. Holoprosencephaly occurs when the brain fails to divide properly. ...
  4. 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 ( ...
  5. 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>< ...
  6. 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 ...
  7. 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. ...
  8. 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) ...
  9. 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 ...
  10. Resources for Genetics Professionals — Genetic Disorders Caused by Nucleotide Repeat Expansions and Contractions - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535148
    ... 11 TTTTA/TTTTC Intron 1 0 192 ZIC2 Holoprosencephaly type 5 (See Holoprosencephaly Overview .) AD ~40% GCN (Ala) Exon 3 15 ...
first · previous · 1 · 2 · 3 · 4 · next · last