Literature DB >> 31074139

Craniofacial characterization of Marfan Syndrome.

Christian M Johnson1, Brittany Spruiell2, Chris Wiesen3, Luiz A Pimenta4, William Vann5, Sylvia A Frazier-Bowers1.   

Abstract

OBJECTIVE: The morbidity and mortality associated with the Marfan Syndrome (MFS) warrant timely diagnosis and intervention that can improve long-term prognosis. The aim of this study was to test the hypothesis that a distinct craniofacial morphology exists for patients with MFS that can be described quantitatively and qualitatively.
METHODS: Subjects with a positive diagnosis of MFS were recruited for this study (N = 36). Craniofacial anthropometric measurements were made on each subject and compared to established norms of age- and sex-matched controls using z-scores calculated for measurements of MFS patients. Lateral and frontal photographs were obtained to make qualitative assessments and describe facial features of subjects, and a clinical examination was completed to document occlusal relationships.
RESULTS: The subjects were primarily female (58%) ranging in age between 4 and 57 years (mean age 10.7 ± 6.0 years). Comparison of craniofacial measurements revealed that for 10 of the 12 measurements, ≥65% of the study population had a z-score of ± 2 and fell within the normal range for facial dimension. For 2 of the 12 measurements, over half of the subjects fell outside of the normal range (z-score < -2 or > 2) for facial dimension. Specifically, the majority of participants resided in the supernormal category for biocular width and the subnormal category for width of the face. Photographic assessment revealed retrognathia (54%) and down-slanting palpebral fissures (62%) were most prevalent in MFS patients.
CONCLUSION: Our data suggest there are quantitative differences in the facial morphology of patients with MFS when compared to a control population.
© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Keywords:  Marfan; craniofacial; diagnostic; skeletal

Mesh:

Year:  2019        PMID: 31074139     DOI: 10.1111/ocr.12295

Source DB:  PubMed          Journal:  Orthod Craniofac Res        ISSN: 1601-6335            Impact factor:   1.826


  2 in total

1.  Transforming Growth Factor Beta Receptor 2 (TGFBR2) Promoter Region Polymorphisms May Be Involved in Mandibular Retrognathism.

Authors:  Margarita Kirschneck; Nermien Zbidat; Eva Paddenberg; Caio Luiz Bitencourt Reis; Isabela Ribeiro Madalena; Maria Angélica Hueb de Menezes-Oliveira; César Penazzo Lepri; Peter Proff; Christian Kirschneck; Erika Calvano Küchler
Journal:  Biomed Res Int       Date:  2022-06-15       Impact factor: 3.246

Review 2.  The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management.

Authors:  Lily Pollock; Ashley Ridout; James Teh; Colin Nnadi; Dionisios Stavroulias; Alex Pitcher; Edward Blair; Paul Wordsworth; Tonia L Vincent
Journal:  Curr Rheumatol Rep       Date:  2021-11-26       Impact factor: 4.592

  2 in total

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