Fig. 1

Clinical features of families SND-65, SND-17 and NAD-05 and segregation of identified variant. A Pedigree of family SND-65. Consanguinity is indicated by double lines, filled symbols denote homozygous affected individuals and symbols with dots denote the heterozygous carriers of the variant. Asterisks (*) indicate individuals for whom WES was performed. Genotypes for CHST3 variant c.590 T > C;p.(Leu197Pro), are given for all participants below their symbols. B Photographs of affected individual IV:3 and IV:6 of family SND-65 showing deformed and dislocated joints. Spine radiographs of IV:3 reveals mild thoracolumbar scoliosis, spondylolisthesis of the lower lumbar spine, generalized disk space narrowing with irregular endplates. Hip radiographs indicate subluxation of the hip joints with flat proximal femoral epiphyses, prominent lesser trochanter, and severe genu valgum. C Pedigree of family SND-17. Consanguinity is indicated by double lines, filled symbols denote homozygous affected individuals and symbols with dots denote the heterozygous carriers of the variant. Asterisks (*) indicate individuals for whom WES was performed. Genotypes for CHST3 variant c.603C > A;p.(Tyr201Ter), are given for all participants below their symbols. D Photographs and radiographs of individual III:7 of family SND-17 indicating deformed and dislocated joints. Radiographs indicate prominent lesser trochanters, severe genu valgum with dysplastic epiphyses of both knee joints, and supernumerary carpal bones degenerative joint disease of both hip joints. E Pedigree of family NAD-05. Consanguinity is indicated by double lines, filled symbols denote homozygous affected individuals and symbols with dots denote the heterozygous carriers of the variant. Asterisk (*) indicate individual for whom whole exome sequencing was performed. Genotypes for CHST3 variant c.661C > T;p.(Arg221Cys), are given for all participants below their symbols. F Photograph of individual IV:1 of family NAD-05, proportionately short stature with chest deformity is obvious. G Image of deformed knee and ankle joints of IV:1 of family NAD-05, club feet are indicated by red circle. H Photographs of forearms of IV:1 of family NAD-05, indicating limited extension of elbow joint