Craniofacial Abnormalities in Hutchinson-Gilford Progeria Syndrome

HGPS is a rare syndrome of segmental premature aging. Our goal was to expand the scope of structural bone and soft-tissue craniofacial abnormalities in HGPS through CT or MR imaging. Using The Progeria Research Foundation Medical and Research Database, 98 imaging studies on 25 patients, birth to 14....

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Published inAmerican journal of neuroradiology : AJNR Vol. 33; no. 8; pp. 1512 - 1518
Main Authors ULLRICH, N. J, SILVERA, V. M, CAMPBELL, S. E, GORDON, L. B
Format Journal Article
LanguageEnglish
Published Oak Brook, IL American Society of Neuroradiology 01.09.2012
Subjects
Adolescent
Biological and medical sciences
Child
Child, Preschool
Craniofacial Abnormalities - complications
Craniofacial Abnormalities - diagnostic imaging
Craniofacial Abnormalities - pathology
Female
Head - diagnostic imaging
Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy
Humans
Infant
Infant, Newborn
Investigative techniques, diagnostic techniques (general aspects)
Male
Medical sciences
Nervous system
Nervous system (semeiology, syndromes)
Neurology
Pediatrics
Progeria - complications
Progeria - diagnostic imaging
Progeria - pathology
Radiodiagnosis. Nmr imagery. Nmr spectrometry
Radiography
Radiodiagnosis
Nervous system diseases
Craniofacial
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Summary:HGPS is a rare syndrome of segmental premature aging. Our goal was to expand the scope of structural bone and soft-tissue craniofacial abnormalities in HGPS through CT or MR imaging. Using The Progeria Research Foundation Medical and Research Database, 98 imaging studies on 25 patients, birth to 14.1 years of age, were comprehensively reviewed. Eight newly identified abnormalities involving the calvaria, skull base, and soft tissues of the face and orbits were present with prevalences between 43% and 100%. These included J-shaped sellas, a mottled appearance and increased vascular markings of the calvaria, abnormally configured mandibular condyles, hypoplastic articular eminences, small zygomatic arches, prominent parotid glands, and optic nerve kinking. This expanded craniofacial characterization helps link disease features and improves our ability to evaluate how underlying genetic and cellular abnormalities culminate in a disease phenotype.
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ISSN:0195-6108
1936-959X
DOI:10.3174/ajnr.a3088