Apert syndrome with lobar holoprosencephaly and agenesis of corpus callosum in a Palestinian neonate: case report
Full term female newborn was a product of normal delivery, she had dysmorphic feature ;small eye sockets,proptosis,hypertelorism,down slanted palpebral fissure, low set ears, depressed nose bridge, narrow high arched palate, trapezoid mouth, bilateral hands had complex syndactyly involving 2nd ,3rd...
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| Format: | Article |
| Language: | English |
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Bulgarian Association of Young Surgeons
2019-03-01
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| Series: | International Journal of Medical Reviews and Case Reports |
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| Online Access: | http://www.ejmanager.com/fulltextpdf.php?mno=299473 |
| Summary: | Full term female newborn was a product of normal delivery, she had dysmorphic feature ;small eye sockets,proptosis,hypertelorism,down slanted palpebral fissure, low set ears, depressed nose bridge, narrow high arched palate, trapezoid mouth, bilateral hands had complex syndactyly involving 2nd ,3rd and 4th fingers ,both feet had syndactyly between 3rd and 2nd toes and webbed 1st and 2nd toes. Brain CT showed agenesis of corpus callosum and lober holoprosencephalay and bilateral coronal synostosis. The feature consistent with a autosomal dominant apert syndrome which is a rarely associated with agenesis of corpus callosum and lober holoprosencephaly |
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| ISSN: | 2534-9821 2534-9821 |