Monitoring of therapy for mucopolysaccharidosis Type I using dysmorphometric facial phenotypic signatures

JIMD Reports

Volumn 22, Issue , 2015, Pages 99-106

  Kung, Stefanie ^a   Walters, Mark ^b   Claes, Peter ^c,d,e   LeSouef, Peter ^a   Goldblatt, Jack ^a,f,g   Martin, Andrew ^a   Balasubramaniam, Shanti ^b   Baynam, Gareth ^a,f,g,h  

^a UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^b PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^c Katholieke Universiteit Leuven   (Belgium)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e UNIVERSITY OF LEUVEN   (Belgium)

^f Princess Margaret Hospital and PathWest   (Australia)

^g DEPARTMENT OF HEALTH   (Australia)

^h MURDOCH UNIVERSITY   (Australia)

Author keywords

3D faces; Dysmorphometrics; Geometric morphometrics; Mucopolysaccharidosis type I; Spatially dense; Treatment monitoring

Indexed keywords

EID: 85032346720     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2015_417     Document Type: Chapter

References (14)

1. Aldridge K, Boyadjiev SA, Capone GT, DeLeon VB, Richtsmeier JT (2005) Precision and error of three-dimensional phenotypic measures acquired from 3dMD photogrammetric images. Am J Med Genet A 138A(3):247–253
2. Baynam GS, Walters M, Dawkins H, Bellgard M, Halbert AR, Claes P (2013) Objective monitoring of mTOR inhibitor therapy by three-dimensional facial analysis. Twin Res Hum Genet 16 (4):840–844
3. Church H, Tylee K, Cooper A et al (2007) Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease. Bone Marrow Transplant 39(4):207–210
4. Claes P (2007) A robust statistical surface registration framework using implicit function representations: application in craniofacial reconstruction. KU Leuven, Leuven
5. Claes P, Daniel K, Walters M, Clement JG, Vandermeulen D, Suetens P (2012a) Dysmorphometrics: the modelling of morphological anomalies. Theor Biol Med Model 9(5):1–39
6. Claes P, Walters M, Clement JG (2012b) Improved facial outcome assessment using a 3D anthropometric mask. Int J Oral Maxillofac Surg 41:324–330
7. Claes P, Walters M, Gillett D, Vandermeulen D, Clement JG, Suetens P (2013) The normal-equivalent: a patient-specific assessment of facial harmony. Int J Oral Maxillofac Surg 42(9):1150–1158
8. Clarke LA, Heppner J (2011) Mucopolysaccharidosis type I. University of Washington, Seattle
9. de Souza MA, McAllister C, Suttie M et al (2013) Growth hormone, gender and face shape in prader-willi syndrome. Am J Med Genet A 161(10):2453–2463
10. Hammond P, Suttie M (2012) Large-scale objective phenotyping of 3D facial morphology. Hum Mutat 33(5):817–825
11. Kung S, Walters M, Claes P, Goldblatt J, Le Souef P, Baynam G (2012) A dysmorphometric analysis to investigate facial phenotypic signatures as a foundation for non-invasive monitoring of lysosomal storage disorders. Springer, Berlin/Heidelberg, pp 1–9
12. Muhlstein A, Gelperina S, Kreuter J (2013) Development of nanoparticle-bound arylsulfatase B for enzyme replacement therapy of mucopolysaccharidosis VI. Pharmazie 68(7):549–554
13. van Gelder CM, Vollebregt AA, Plug I, van der Ploeg AT, Reuser AJ (2012) Treatment options for lysosomal storage disorders: developing insights. Expert Opin Pharmacother 13 (16):2281–2299
14. Wynn R (2011) Stem cell transplantation in inherited metabolic disorders. Hematology 2011:285–291