[...]... b c d Fig 1.29 a–d Short small tubular bones: clinical view of the hand of a girl (a) and radiograph of the hand (b) of the same patient Broad feet (c) of a 28-year-old female, and radiograph of the feet of a young patient (d) Common Bone Dysplasias and Malformations a Chapter 1 b Fig 1.30 a, b Retarded ossification of the proximal femur on radiograph of a young patient (a), which is usually accompanied... the radiograph of a 28-year-old female (b) Fig 1.31 Spondyloepiphyseal dysplasia tarda Normal stature of a 13-year-old boy 13 14 Chapter 1 Common Bone Dysplasias and Malformations Fig 1.32 a, b Moderate deformities of the thoracolumbar spine (a) and hip and pelvis (b) of the same patient b a a b Fig 1.33 a, b Late form of spondyloepiphyseal dysplasia congenita: Short stature of a 39-year-old male Common... tubular bones and in pelvis Radiograph of the hand of an 8-year-old boy (note the deformed axis of the forehand) (a) and a 25-year-old patient (b) Multiplex enchondromas also seen in pelvic region (c) c b Fig 1.62 a, b Enchondromas appear together with cutan and soft tissue hemangiomas in Maffucci’s syndrome Clinical view (a) and radiograph (b) of a patient at the age of 25 with Maffucci’s syndrome Note... projections of bone, mainly at the metaphyses of long bones at the extremities The risk of malignant transformation of the cartilaginous portion of the exostoses, is up to 2% Most common deformities include short stature, limb length discrepancies, valgus deformities of the knee and ankle, bowing of the radius with ulnar deviation of the wrist, and subluxation of the radiocarpal joint, asymmetry of the... deformities Chest-wall involvement with enlargement of costochondral junctions causes “rachitic rosary” (Figs 1.24–1.26) a b Fig 1.24 Anterior view of a 17year-old girl with McKusick type of metaphyseal dysplasia with typical light-coloured and sparse hair Note also the disproportionate short stature and varus deformity of the lower extremity c Fig 1.25 a–c Dorsal (a) and palmar (b) clinical view of short... radiograph of the lower extremities: in hip with mild coxa vara and with varus deformity of the knee of the same patient Note the scars in longitudinal trabeculae in metaphyseal region of the femur Fig 1.27 a, b Characteristic view from lateral of an 8-yearold boy (a) and an anterior view of a 28-year-old female (b) Both of them short statured due to congenital spondyloepiphyseal dysplasia Congenital spondyloepiphyseal... fractures of metatarsal bones, and femoral pseudo-fractures (Figs 1.17–1.19) Common Bone Dysplasias and Malformations Fig 1.17 Varus knee deformity of lower limbs in hypophosphatasia of a female patient Chapter 1 a Fig 1.19 Radiographs of a doliocephalic skull Lateral view b Fig 1.18 a, b Radiographs of a 12-year-old boy Enlarged knee joints, bowed fibulas, and impaired mineralization at epi-metaphyseal... affected There is a shortening of the right leg as consequence of the process Fig 1.59 Archive photograph taken from a 9-year-old boy with enchondromatosis Note the significant shortening and bowing of the right femur and the left radius a b Fig 1.60 a, b Lesions of the right tibia and fibula resulted a 7 cm shortening and bowing of the leg (a) The same extremity after correction of axial deformity (b) 24... view of the elbow (a) and both tibias and fibulas (b) The tubular bones are short and thick a b Fig 1.22 a, b The hands after the resection of bilateral postaxial polydactyly presenting dystrophic nails Postaxial polydactyly and dystrophic nails (a), and shortening of the digits on radiograph of the hands (b) Note the partial fusion of the metacarpal bases b Fig 1.23 a, b Shortening of the digits of. .. dominant manner Over 80% of individuals with achondroplasia have parents with normal stature and have achondroplasia as the result of a “de novo” mutation of a gene, localized to the distal short arm of chromosome 4 In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often delayed Intelligence and life span are usually normal Compression of the spinal cord and upper .