Ravi Savarirayan

Fat infiltration in the thigh muscles is associated with symptomatic spinal stenosis and reduced physical functioning in adults with achondroplasia.

Svein O Fredwall, Jennifer Linge, Olga de Vries, Olof Dahlqvist Leinhard, Heidi Beate Eggesbø, Harald Weedon-Fekjær, Mikael Petersson, Per Widholm, Grethe Månum, Ravi Savarirayan

Journal article  |  2023  |  Orphanet J Rare Dis

BACKGROUND: Symptomatic spinal stenosis is a prevalent complication in adults with achondroplasia. Increased muscle fat infiltrati..

Australian guidelines for the management of children with achondroplasia.

Louise J Tofts, Jennifer A Armstrong, Stephanie Broley, Theresa Carroll, Penelope J Ireland, Minna Koo, Katherine Langdon, Lesley McGregor, Fiona McKenzie, Divyesh Mehta, Ravi Savarirayan, Tracy Tate, Alison Wesley, Andreas Zankl, Maree Jenner, Marta Eyles, Verity Pacey

Journal article  |  2023  |  J Paediatr Child Health

Achondroplasia is the most common form of skeletal dysplasia. In addition to altered growth, children and young people with achond..

Nosology of genetic skeletal disorders: 2023 revision

S Unger, CR Ferreira, GR Mortier, H Ali, DR Bertola, A Calder, DH Cohn, V Cormier-Daire, KM Girisha, C Hall, D Krakow, O Makitie, S Mundlos, G Nishimura, SP Robertson, R Savarirayan, D Sillence, M Simon, VR Sutton, ML Warman, et al.

Journal article  |  2023  |  American Journal of Medical Genetics, Part A

The “Nosology of genetic skeletal disorders” has undergone its 11th revision and now contains 771 entries associated with 552 gene..

Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.

Ravi Savarirayan, Melita Irving, Paul Harmatz, Borja Delgado, William R Wilcox, John Philips, Natalie Owen, Carlos A Bacino, Louise Tofts, Joel Charrow, Lynda E Polgreen, Julie Hoover-Fong, Paul Arundel, Ignacio Ginebreda, Howard M Saal, Donald Basel, Rosendo Ullot Font, Keiichi Ozono, Michael B Bober, Valerie Cormier-Daire, et al.

Journal article  |  2022  |  Genet Med

PURPOSE: This study was undertaken to collect baseline growth parameters in children with achondroplasia who might enroll in inter..

PSAT103 Qualitative Research in Children with Achondroplasia and Parents of Children with Achondroplasia: Medical Challenges and Impacts

Elena Muslimova, Julie Hoover-Fong, Susan D Mathias, Ravi Savarirayan, Chandler Crews, Inês Alves, Susana Noval Iruretagoyena, Amer Haider, Terry Cho, Anne Lee, Hilary H Colwell

Journal article  |  2022  |  Journal of the Endocrine Society

Abstract Background Achondroplasia (ACH) is the most common form of non-lethal..

LBMON196 A Randomized Controlled Trial Of Vosoritide In Infants And Toddlers With Achondroplasia

Ravi Savarirayan, William W Wilcox, Paul Harmatz, John Phillips III, Lynda E Polgreen, Louise Tofts, Keiichi Ozono, Paul Arundel, Melita Irving, Carlos A Bacino, Donald Basel, Michael B Bober, Joel Charrow, Hiroshi Mochizuki, Yumiko Kotani, Howard M Saal, George Jeha, Lynn Han, Elena Fisheleva, Alice Huntsman-Labed, et al.

Journal article  |  2022  |  Journal of the Endocrine Society

Abstract Background Vosoritide increases annualized growth velocity (AGV) in c..

RF26 | PMON326 Medical History of Children Enrolled in PROPEL: A Prospective Clinical Assessment Study in Children with Achondroplasia

Melita Irving, Josep Maria De Bergua, Daniela Rogoff, Ravi Savarirayan, Paul Arundel, Jean Pierre Salles, Antonio Leiva-Gea, Vrinda Saraff, Helen McDevitt, Fernando Santos-Simarro, Marc Nicolino, Valerie Cormier-Daire, Peter Kannu, Mars Skae, Michael B Bober, John Phillips III, Christine Burren, Paul Harmatz, Howard Saal, Julie Hoover-Fong, et al.

Journal article  |  2022  |  Journal of the Endocrine Society

Abstract Background Achondroplasia (ACH) is the most common short-limbed skele..

PSAT102 Qualitative Research in Children and Parents of Children with Achondroplasia to Cognitively Debrief Three Patient-Reported Outcome Measures and Confirm the Content Validity of a Clinical-Assessed Measure

Elena Muslimova, Julie Hoover-Fong, Susan D Mathias, Ravi Savarirayan, Chandler Crews, Inês Alves, Veterinary Medicine, Susana Noval Iruretagoyena, Amer Haider, Terry Cho, Anne Lee, Hilary H Colwell

Journal article  |  2022  |  Journal of the Endocrine Society

Abstract Background Achondroplasia (ACH) is the most common non-lethal form of..

PSAT105 Evaluation of Body Mass Index and Metabolic Parameters in Children with Achondroplasia Participating in the PROPEL Study

Daniela Rogoff, Josep Maria De Bergua, Ravi Savarirayan, Paul Arundel, Jean Pierre Salles, Antonio Leiva-Gea, Melita Irving, Vrinda Saraff, Helen McDevitt, Fernando Santos-Simarro, Marc Nicolino, Valerie Cormier-Daire, Peter Kannu, Mars Skae, Michael B Bober, John Phillips III, Christine Burren, Paul Harmatz, Howard Saal, Julie Hoover-Fong, et al.

Journal article  |  2022  |  Journal of the Endocrine Society

Abstract Background Achondroplasia (ACH) is the most common short-limbed skele..

Investigating disparity in access to Australian clinical genetic health services for Aboriginal and Torres Strait Islander people.

Joanne Luke, Philippa Dalach, Lindsay Tuer, Ravi Savarirayan, Angeline Ferdinand, Julie McGaughran, Emma Kowal, Libby Massey, Gail Garvey, Hugh Dawkins, Misty Jenkins, Yin Paradies, Glenn Pearson, Chloe A Stutterd, Gareth Baynam, Margaret Kelaher

Journal article  |  2022  |  Nat Commun

Globally, there is a recognised need that all populations should be able to access the benefits of genomics and precision medicine..