Progeria MRI: Difference between revisions
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==MRI== | ==MRI== | ||
Head [[Magnetic resonance imaging|MRI]] may be helpful in the [[diagnosis]] of [[craniofacial]] abnormalities in patients with [[Hutchinson-Gilford Progeria syndrome]]([[HGPS]]). Findings on MRI suggestive of Hutchinson-Gilford Progeria include:<ref name="UllrichSilvera2012">{{cite journal|last1=Ullrich|first1=N.J.|last2=Silvera|first2=V.M.|last3=Campbell|first3=S.E.|last4=Gordon|first4=L.B.|title=Craniofacial Abnormalities in Hutchinson-Gilford Progeria Syndrome|journal=American Journal of Neuroradiology|volume=33|issue=8|year=2012|pages=1512–1518|issn=0195-6108|doi=10.3174/ajnr.A3088}}</ref><ref name="pmid16838330">{{cite journal| author=Hennekam RC| title=Hutchinson-Gilford progeria syndrome: review of the phenotype. | journal=Am J Med Genet A | year= 2006 | volume= 140 | issue= 23 | pages= 2603-24 | pmid=16838330 | doi=10.1002/ajmg.a.31346 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16838330 }}</ref> | Head [[Magnetic resonance imaging|MRI]] may be helpful in the [[diagnosis]] of [[craniofacial]] abnormalities in patients with [[Hutchinson-Gilford Progeria syndrome]]([[HGPS]]). Findings on [[Magnetic resonance imaging|MRI]] suggestive of [[Hutchinson-Gilford Progeria syndrome|Hutchinson-Gilford Progeria]] include:<ref name="UllrichSilvera2012">{{cite journal|last1=Ullrich|first1=N.J.|last2=Silvera|first2=V.M.|last3=Campbell|first3=S.E.|last4=Gordon|first4=L.B.|title=Craniofacial Abnormalities in Hutchinson-Gilford Progeria Syndrome|journal=American Journal of Neuroradiology|volume=33|issue=8|year=2012|pages=1512–1518|issn=0195-6108|doi=10.3174/ajnr.A3088}}</ref><ref name="pmid16838330">{{cite journal| author=Hennekam RC| title=Hutchinson-Gilford progeria syndrome: review of the phenotype. | journal=Am J Med Genet A | year= 2006 | volume= 140 | issue= 23 | pages= 2603-24 | pmid=16838330 | doi=10.1002/ajmg.a.31346 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16838330 }}</ref> | ||
*J-shaped sella | *J-shaped [[sella]] | ||
* | *Calvarial vascular markings | ||
*Defective mandibular condyles | *Defective [[mandibular]] [[condyles]] | ||
*Hypoplastic articular eminences | *[[Hypoplasia|Hypoplastic]] [[articular]] eminences | ||
*Small zygomatic arches | *Small [[zygomatic]] arches | ||
*Prominent parotid glands | *Prominent [[Parotid gland|parotid]] glands | ||
*Scattered small white matter infarcts can be identified with the help of MRI | *Scattered small [[white matter]] [[Infarct|infarcts]] can be identified with the help of [[Magnetic resonance imaging|MRI]] | ||
* | * | ||
Latest revision as of 18:24, 12 August 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Head MRI may be helpful in the diagnosis of craniofacial abnormalities in patients with Hutchinson-Gilford Progeria syndrome(HGPS)
MRI
Head MRI may be helpful in the diagnosis of craniofacial abnormalities in patients with Hutchinson-Gilford Progeria syndrome(HGPS). Findings on MRI suggestive of Hutchinson-Gilford Progeria include:[1][2]
- J-shaped sella
- Calvarial vascular markings
- Defective mandibular condyles
- Hypoplastic articular eminences
- Small zygomatic arches
- Prominent parotid glands
- Scattered small white matter infarcts can be identified with the help of MRI
References
- ↑ Ullrich, N.J.; Silvera, V.M.; Campbell, S.E.; Gordon, L.B. (2012). "Craniofacial Abnormalities in Hutchinson-Gilford Progeria Syndrome". American Journal of Neuroradiology. 33 (8): 1512–1518. doi:10.3174/ajnr.A3088. ISSN 0195-6108.
- ↑ Hennekam RC (2006). "Hutchinson-Gilford progeria syndrome: review of the phenotype". Am J Med Genet A. 140 (23): 2603–24. doi:10.1002/ajmg.a.31346. PMID 16838330.