Thursday March 8 th

08.15-08.45 Registration, coffee and tea
08.45-08.55 Welcome Skovby/Hindsø/Hove
08.55-09.00 Introduction, Per Jørgensen, Deputy Chief Executive, Rigshospitalet

Skeletal signs and symptoms associated with metabolic and endocrine disease
09.00-09.30 Lysosomal storage diseases: clinical and skeletal findings, Nishimura G
09.30-10.00 Hypophosphatasia, Bishop N
10.00-10.30 X-linked hypophosphatemia, Beck-Nielsen S
10.30-11.00 Gene panels in identification of skeletal dysplasia, Kangas-Kontio (sponsor lecture)

11.00-11.30 Break, coffee, tea and fruit

Free lectures, open session
11.30-11.45 Hip pathology in MPS, Knaus A
11.45-12.00 Hajdu-Cheney syndrome – phenotypes at different ages, Gregersen P
12.00-12.15 Trial for Hajdu-Cheney syndrome, Irving M
12.15-12.30 WES in diagnostic setting for skeletal dysplasia, Beleza A

12.30-13.30 Lunch

Jaw and dental aspects of skeletal dysplasia
13.30-14.00 Pycnodysostosis: clinical and skeletal findings, Haagerup A
14.00- 14.30 Symptoms applied to my body, Thilde/Sofie (with pycnodysostosis)
14.30-15.00 Craniofacial, dental and upper airway aspects of some skeletal dysplasias, Kreiborg S
15.00-15.30 Swedish quiz with jaw and dental focus, three-five questions, Horemuzova/Voss

15.30-16.00 Break, coffee, tea and fruit

16.00-17.00 Carlsberg sightseeing tour

17.30- Dinner at Carlsberg Museum, Queens Room

Friday March 9 th

Genes and filaminopathies
09.00-09.30 Filaminopathies, Nishimura G
09.30-10.00 Skeletal dysplasia panels and beyond, Grigelioniene G
10.00-10.30 Educative cases (solved or unsolved) from the participants

10.30-11.00 Break, coffee, tea and fruit

Recessive OI
11.00-11.30 Recessive OI. Genetic background, signs and symptoms, Wekre L
11.30-12.00 Fracture management and deformity correction, Nygaard T
12.00-12.30 Norwegian quiz with focus on recessive OI, three-five questions, Merckoll E/Rustad C

12.30-13.30 Lunch

13.30-14.30 Management and follow-up of achondroplasia, Irving M/Osmund D
14.30-15.00 Cervical spine compression/instability: diagnoses, signs and symptoms, Borbjerg T
15.00-15.15 Achondroplasia: mechanical axis considerations. Orthosis – true or false, Hindsø K
15.15-15.30 Finnish quiz with focus on achondroplasia three-five questions, Valta H

15.30-16.00 Concluding remarks, evaluation and passing the baton, Skovby/Hindsø/Hove