| Main clinical features
|
postnatal short stature and significant kyphoscoliosis leading to progressive deformity
significant scoliosis and mild metaphyseal abnormalities in the pelvis
short neck, pectus carinatum, and genu varus; radiographic phenotype is distinct and includes odontoid hypoplasia, platyspondyly with vertebral bodies described as resembling an “open staircase,” overfaced vertebral pedicles, short square ilia, flat acetabular roofs, wide proximal femoral epiphyseal plates, metaphyseal irregularities, and markedly delayed carpal bone ossification |