Objective: The aim was to assess craniofacial features through facial anthropometric and lateral cephalometry measurements of individuals with mucopolysaccharidosis (MPS) and compare them with individuals without MPS.
Design: Cross-sectional study.
Patients: A total of 14 individuals with MPS and 28 non-MPS age- and sex-matched were enrolled in this study.
Methods: A clinical facial analysis to evaluate the soft tissues and cephalometric analysis that comprised linear and angular measurements were performed. The calculation of the method error suggested no systematic errors ( > .05). Random errors for linear and angular measurements were low (less than 0.5° and 1.6 mm). Chi-square test and independent were performed.
Results: Most individuals with MPS were dolichofacial, presented altered facial proportions with an increased anterior lower facial height (ALFH) and lip incompetence (all p < .05), when compared with non-MPS individuals. Six angular measurements (1s.Na, 1s.NB, FMA, IMPA, AFI, and Po.Or_Go.Me; all p < .05) were significantly increased among individuals with MPS, and two (1s.1i and Ba.N-Ptm.Gn, all p < .05) were significantly decreased among them. Four linear measurements were significantly increased among individuals with MPS (1s-NA, 1i-NB, S-UL, and S-LL; all p < .05) and five (PogN-Perp, Co-A, Co-Gn, Nfa-Nfp, and overbite; all p < .05) were significantly decreased among them.
Conclusion: In summary, most individuals with MPS were dolichofacial with increased ALFH. Proclined upper and lower incisors, reduced nasopharyngeal space, and reduced overbite was also noted.
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http://dx.doi.org/10.1177/10556656211053154 | DOI Listing |
BMC Pregnancy Childbirth
January 2025
Department of Clinical Genetics, Rennes University Hospital, Rennes, France.
Background: Mucopolysaccharidosis type I (MPS I - IDUA gene) is a rare autosomal recessive lysosomal storage disorder. Clinical symptoms, including visceral overload, are progressive and typically begin postnatally. Descriptions of hepatosplenomegaly associated with lysosomal pathology are uncommon during the prenatal period.
View Article and Find Full Text PDFJ Appl Genet
December 2024
Psychological Counselling for Rare Genetic Diseases, Institute of Psychology, Faculty of Social Science, University of Gdansk, Bażynskiego, 4, 80-309, Gdańsk, Poland.
This case study presents a comprehensive analysis of the neurocognitive, medical, and developmental functioning of a 9-year-old girl diagnosed with mucopolysaccharidosis type IIIC (MPS IIIC). Genetic testing revealed a homozygous pathogenic variant of the HGSNAT gene (c.1872C > A), typically associated with severe neurodegeneration.
View Article and Find Full Text PDFHum Genomics
December 2024
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, Department of Women's and Children's Health, University of Padova, Padova, Italy.
Purpose: Mucopolysaccharidosis type II (MPS II) is a rare X-linked lysosomal storage disorder caused by genetic alterations in the iduronate 2-sulfatase (IDS) gene. A wide range of variants has been reported for different countries and ethnic groups. We collected, analyzed and uniformly summarized all published IDS gene variants reported in literature up to June 2023, here providing the first worldwide review and classification.
View Article and Find Full Text PDFOrphanet J Rare Dis
November 2024
Center for Research and Diagnosis of Genetic Diseases - Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
Background: α-mannosidosis is an inborn error of metabolism caused by the deficiency of the lysosomal enzyme α-mannosidase, which is encoded by the MAN2B1 gene and inherited in an autosomal recessive manner. The impairment of affected individuals is multisystemic and very similar to the observed in some mucopolysaccharidosis (MPS) patients. The aim of this study was to search for α-mannosidosis cases in individuals with clinical suspicion of MPS without a confirmed diagnosis.
View Article and Find Full Text PDFMol Biol Rep
November 2024
Children Growth Disorder Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Background: Mucopolysaccharidosis type VI (MPS VI), also known as Manteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficiency of the enzyme arylsulfatase B(ARSB). This syndrome is progressive and affects many tissues and organs, leading to inflammation and scarring. The classic clinical features of Maroteaux-Lamy syndrome are significant impairment of the osteoarticular system with dysostosis multiplex, short stature and motor dysfunction.
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