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- W2804119723 abstract "Holoprosencephaly (HPE) is partial or complete failure of the forebrain to divide into hemispheres and can be an isolated finding or associated with a syndrome. Most cases of HPE are associated with a syndrome and roughly 40%-60% of fetuses with HPE have trisomy 13 which is the most common etiology of HPE. Other syndromes associated with HPE include additional aneuploidies like trisomy 18 and single gene disorders such as Smith-Lemli-Opitz syndrome. There are a number of syndromes such as pseudotrisomy 13 which do not have a known molecular etiology; therefore, this review has two parts: syndromes with a molecular diagnosis and syndromes where the etiology is yet to be found. As most HPE is syndromic, this review provides a comprehensive list and description of syndromes associated with HPE that may be used as a differential diagnosis and starting point for evaluating individuals with HPE." @default.
- W2804119723 created "2018-06-01" @default.
- W2804119723 creator A5078501682 @default.
- W2804119723 creator A5087687382 @default.
- W2804119723 date "2018-05-17" @default.
- W2804119723 modified "2023-09-29" @default.
- W2804119723 title "Syndromes associated with holoprosencephaly" @default.
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- W2804119723 doi "https://doi.org/10.1002/ajmg.c.31620" @default.
- W2804119723 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6125175" @default.
- W2804119723 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29770994" @default.
- W2804119723 hasPublicationYear "2018" @default.
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