The workshop includes several lectures of the well-known experts in the field.
Thursday 5.5.2022


08.15-08.45 COFFEE

Moderator Saila Laakso, Finland

08.45-08.50 Welcome Mikko Seppänen, Finland

08.50-09.00 Introduction to the Workshop Outi Mäkitie, Finland

09.00-09.30 Skeletal dysplasias - An overview of the disease spectrum Geert Mortier, Belgium

09.30-10.00 Childhood fractures - when to consider OI or child abuse? Else Merckoll, Norway

10.00-10.20 Case presentations: Norwegian cases Cecilie Rustad

10.20-10.35 COFFEE

10.35-11.05 Panels, WES, WGS, RNAseq - an update on genetic tools Giedre Grigelioniene, Sweden

11.05-11.30 Mulibrey nanism - a Finnish skeletal dysplasia Susann Karlberg, Finland

11.30-11.55 Shwachman-Diamond syndrome – from skeletal and gastrointestinal

phenotype towards a high-risk hematological syndrome Ulla Wartiovaara-Kautto, Finland

11.55-12.15 Case presentations: Danish cases Hanne Hove, Merete Ljungberg



Moderator Sanna Toiviainen-Salo, Finland

13.15-13.45 Achondroplasia - un update on novel treatments Melita Irving, UK

13.45-14.15 Hypophosphatemic rickets - new treatments Ola Nilsson, Sweden

14.15-14.35 Case presentations: Swedish cases Ulrika Voss, Ola Nilsson

14.35-14.55 COFFEE

14.55-15.25 An update on hypophosphatasia  Liisa Viikari, Finland

15.25-15.45 Case presentations: Finnish cases Matti Hero, Heidi Toiminen

15.45-16.30 Short presentations: three presentations à 15 min Maria Haanpää,  Aušra Matulevičienė, Kirsi Määttä

16.30-16.35 Closing remarks, Outi Mäkitie


18.00 The Workshop Dinner  - Restaurant Sofia

Address: Aleksanterinkatu 28, Helsinki

Please note that a separate registration is required by April 29, 2022

This Dinner has been sponsored by Alexion and BioMarin Europe Limited