Table 1

Clinical and radiographic features of the four patients and the case reported by Hoeffel et al12

Patient 1Patient 2Patient 3Patient 4Case of Hoeffel et al12
OFC: occipitofrontal (head) circumference; P: pectus; CSE: cone shaped epiphyses; d/m/p phal: distal/middle/proximal phalanges; metacarp: metacarpals; fem/tib: femoral/tibial; H/U/R: humerus/ulna/radius; epiph: epiphysis; N: normal.
Stature (age)– 3.5 SD (9.5 years)– 2.3 SD (9.5 years)– 3 SD (7 years)– 7.6 SD (9 years)– 7 SD (12 years)
    OFC3th–50th centile50th–75th centile90th centile>98th centile?
    Short limbs++++++++++
    DeformitiesNoNoNoGenu varumGenu varum
    ThoraxNarrowNormalP excavatumP carinatum?
Hands (age)(at 9.5 y)(at 9.5 y)(at 3 8/12 y)(at 11 y)(at 12 y)
    CSE in thumbsYesYesYesYes?
    CSE in m & d phalYesYesYesYesYes
    CSE in p phalNoNoYesYesNo
    CSE in metacarpNo (thumb only)No (thumb only)YesYesYes
    Carpal bone ageRetardedRetardedRetardedRetardedRetarded
Pelvis (age)(at 9.5 y)(at 9.5 y)(at 3 8/12 y)(at 10 y)(at 8 y)
    Iliac wingsNNShort, flaredShort, flaredN
    Acetabular roofsNNFlat, wideNOblique
    Coxa varaNoYesYesYesYes
    Prox fem physisFusedFusedFusedFusedFused
    Femoral headEgg shapedEgg shapedEgg shapedEgg shapedEgg shaped
    Femoral neckShortShortShortShortShort
    Femoral “collar”YesYesYesYesYes
Upper limbs(at 9.5 y)(at 9.5 y)(at 7 y)(at 9¼ y)(at 8 y)
    Humeral headNNVarus deformityCSEVarus deformity
    Shortening H/U/R+++++++?
Lower limbs(at 9.5 y)(at 11 y)(at 5 y)(at 11 y)(at 12 y)
    Dist fem epiphLargeLargeLargeLarge?
    Prox tib epiphReduced widthReduced widthReduced widthCSECSE
    Dist tib physisEarly closureEarly closureCSECSECSE
    Prox part fibulaMild overgrowthMild overgrowthOvergrowthOvergrowthOvergrowth
    Short tibia+++++++++
    Tibia varaNoNoYesYesYes