Craniofacial Abnormalities in Hutchinson-Gilford Progeria Syndrome

• Published in: American 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
• Language: English
• 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
• ISSN: 0195-6108; 1936-959X
• DOI: 10.3174/ajnr.a3088

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.