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https://hdl.handle.net/2440/71555
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Full metadata record
DC Field | Value | Language |
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dc.contributor.author | Rudaks, L. | - |
dc.contributor.author | Moore, L. | - |
dc.contributor.author | Shand, K. | - |
dc.contributor.author | Wilkinson, C. | - |
dc.contributor.author | Barnett, C. | - |
dc.date.issued | 2011 | - |
dc.identifier.citation | Pediatric Neurology, 2011; 45(3):185-188 | - |
dc.identifier.issn | 0887-8994 | - |
dc.identifier.issn | 1873-5150 | - |
dc.identifier.uri | http://hdl.handle.net/2440/71555 | - |
dc.description.abstract | Pontocerebellar hypoplasia exhibits a diverse range of etiologies, including six known autosomal recessive, single gene disorders. We describe a molecularly confirmed case of pontocerebellar hypoplasia type 4, a rare and severe neonatal phenotype with a novel TSEN54 mutation, presenting with polyhydramnios, hypertonia, and early neonatal death. The patient manifested severe hypoplasia of the cerebellum and brainstem. The neuropathologic findings in pontocerebellar hypoplasia type 4 develop late in gestation, and therefore prenatal diagnosis with ultrasonography is of limited use. Establishing a molecular diagnosis in the proband is critical for allowing couples to plan future pregnancies. | - |
dc.description.statementofresponsibility | Laura I. Rudaks, Lynette Moore, Karen L. Shand, Christopher Wilkinson, Christopher P. Barnett | - |
dc.language.iso | en | - |
dc.publisher | Elsevier Science Inc | - |
dc.rights | Copyright © 2011 Elsevier | - |
dc.source.uri | http://dx.doi.org/10.1016/j.pediatrneurol.2011.05.009 | - |
dc.subject | Brain | - |
dc.subject | Medulla Oblongata | - |
dc.subject | Pons | - |
dc.subject | Humans | - |
dc.subject | Microcephaly | - |
dc.subject | Cerebellar Diseases | - |
dc.subject | Muscle Hypertonia | - |
dc.subject | Polyhydramnios | - |
dc.subject | Endoribonucleases | - |
dc.subject | Codon, Nonsense | - |
dc.subject | Fatal Outcome | - |
dc.subject | Pregnancy | - |
dc.subject | Heterozygote | - |
dc.subject | Adult | - |
dc.subject | Infant, Newborn | - |
dc.subject | Female | - |
dc.title | Model TSEN54 mutation causing Pontocerebellar Hypoplasia Type 4 | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1016/j.pediatrneurol.2011.05.009 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Wilkinson, C. [0000-0003-1438-0422] | - |
dc.identifier.orcid | Barnett, C. [0000-0003-1717-3824] | - |
Appears in Collections: | Aurora harvest Paediatrics publications |
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