Table 1

Overview of the clinical features of the 18 subjects with rMED and homozygosity for R279W

Patient NoGenderParental consanguinityClinical signs at birthAge at diagnosis of skeletal dysplasiaLeading signs and symptomsAge at evaluation for this studyHeight and centile for ageDouble layered patellaSurgical proceduresOther diagnoses, remarks
1FNoShort stature, foot deformityBirthFoot deformity28 y149.7 cm, <3rdNot doneNone“Diastrophic dysplasia variant”
2FNoClinodactyly finger V both sides4 yJoint pain (knee)14 y154 cm, 10th-25thYesVarisation osteotomies of both femoral necksVSD, “rheumatoid disorder”
3aMNoNone5 y(Affected brother)20 y157.5 cm, <3rdYesNone
3bMNoClub feetBirthFoot deformity20 y152.4 cm, <3rdYesNone
4a*FNoNoneAdulthoodJoint painAdult156.2 cm, 3rd-10thNot doneNone
4b*FNoNoneAdulthoodJoint painAdult156 cm, 3rd-10thNot doneNone
4c*FNoNoneTeenagerJoint painAdult149.9 cm, <3rdNot doneNone
5aMNoNone12 yScoliosis, brachydactyly32 y170.4 cm, 10th-25thNoNone
5bFNoNone13 yJoint pain (knee)28 y165 cm, 50thYesNone
6aMNoClub feet46 yJoint pain (hip), contractures49 y173 cm, 25th-50thNot doneClub foot surgery
6bFNoCleft palate12 yJoint pain (wrist)38 y158 cm, 10th-25thNot doneNone
7FNoNone5 yJoint pain10 y130 cm, 3rd-10thNot doneNone
8MYesCystic swelling of ear, club feet4 yGenua vara15 y180 cm, 90thYesSeveral operations for club feet“Bilateral Perthes’ disease”
9FYesClub feetBirthFoot deformity9 y131 cm, 10th-25thNoSeveral operations for club feet
10aMNoNone5 yFemur fractures10 y135 cm, 25thYesNone
10bMNoNone4 y(Affected brother)9 y129 cm, 10th-25thNot doneNone
11MYesNone4 yFinger deformities35 y149.5 cm, <3rdNoNone
12†MNoClub feetChildhoodFoot deformity36 y180 cm, 50th-75thYesClub foot surgery
*Deere et al.23 †Superti-Furga et al.20