Table 3

 Main clinical and radiographic features of families with a MATN3 mutation

FamilyMutationAge at diagnosis and presenting symptomsShort statureProminent radiographic features of proband
KneesHipsSpineHands
1A219D4 years (III-1): mild short stature and genu valgumYesSmall epiphyses with regular contours and genu valga at 10 years of ageCoxa vara, small epiphyses, short and broad femoral necks at 10 years of ageIrregular ossification of the upper and lower end plates at 7 years of ageNo brachydactyl but small carpal bones at 4 years of age
2I192N2 years (III-2), 8 years (II-2), 10 years (II-1), 31 years (1-1): bilateral hip dysplasiaNoEpiphyses small and irregular in contour at 6 years of ageSmall epiphyses, short and broad femoral necks at 6 years of ageVertebral bodies have a slightly reduced height and an oval shape at 6 years of ageMild metaphyseal changes at 6 years of age
3T120M6 years: pain in the hips and kneesNoSmall epiphyses with irregular contours and vertical metaphyseal striations at 8 years of ageNot availableIrregular ossified end plates at 8 years of ageRelatively normal at 8 years of age
4E134K2 years: knee painYesNot availableNot availableNot availableNot available
5R121W2 years: knee pain and valgus deformityNoRelatively normal at 14 years of ageSmall epiphyses and broad femoral necks at 9 years of ageNormal at 14 years of ageFlattened distal radial epiphysis at 14 years of age
6R121W5 years (II-1 and II-5): knee pain and progressive genu valgaYesSmall epiphyses with irregular contours at 7 years of ageCoxa vara, small epiphyses and short moral necks at 7 years of ageWedge shaped lumbar vertebral bodies at 7 years of ageNot available
7R121W2 years (III-1), 15 years (II-2), 10 years (II-1), 9 years (I-1): knee pain and waddling gaitNoRelatively normal at 15 years of ageVery flat epiphyses and short femoral necks at 15 years of ageNot availableNot available