OF THE SKELETON

OF THE SKELETON

Although many skeletal abnormalities are identified ante - natally or at birth, others become apparent with growth. Skeletal disorders are often linked to focal or generalised soft-tissue abnormalities; the presence of a skin dimple or a ‘featureless’ limbs of a child with arthrogryposis multiplex congenita (AMC) ( Table 44.4 and Figure 44.5 ). /uni25CF /uni25CF /uni25CF /uni25CF Many anomalies require little treatment and cause minimal functional disability whereas others, such as proximal femoral focal deficiency (PFFD), pose considerable challenges to both the patient and their doctors. In these cases the functional and cosmetic needs of the child and family must be balanced against available resources and expertise ( Figure 44.6 ). Despite advances in limb reconstruction techniques there are few high-quality data from skeletally mature patients to support their widespread use. Concurrently , significant advances are occurring with amputation prosthetics, which may result in better patient-reported outcome scores (PROMSs), particularly in certain regions.

TABLE 44.4 Classi /f_i cation of congenital limb malformations. Category Example Failure of formation of parts Transverse Congenital amputation of the forearm/lower limb Longitudinal Fibula hemimelia Failure of differentiation Radioulnar synostosis; vertebral body fusion Duplication Extra digits Overgrowth Gigantism; macrodactyly Undergrowth Congenital constriction Often affects hands/feet with poor band syndrome formation of the digits distally Generalised skeletal Skeletal dysplasia, e.g. abnormalities achondroplasia

OF THE SKELETON

Although many skeletal abnormalities are identified ante - natally or at birth, others become apparent with growth. Skeletal disorders are often linked to focal or generalised soft-tissue abnormalities; the presence of a skin dimple or a ‘featureless’ limbs of a child with arthrogryposis multiplex congenita (AMC) ( Table 44.4 and Figure 44.5 ). /uni25CF /uni25CF /uni25CF /uni25CF Many anomalies require little treatment and cause minimal functional disability whereas others, such as proximal femoral focal deficiency (PFFD), pose considerable challenges to both the patient and their doctors. In these cases the functional and cosmetic needs of the child and family must be balanced against available resources and expertise ( Figure 44.6 ). Despite advances in limb reconstruction techniques there are few high-quality data from skeletally mature patients to support their widespread use. Concurrently , significant advances are occurring with amputation prosthetics, which may result in better patient-reported outcome scores (PROMSs), particularly in certain regions.

TABLE 44.4 Classi /f_i cation of congenital limb malformations. Category Example Failure of formation of parts Transverse Congenital amputation of the forearm/lower limb Longitudinal Fibula hemimelia Failure of differentiation Radioulnar synostosis; vertebral body fusion Duplication Extra digits Overgrowth Gigantism; macrodactyly Undergrowth Congenital constriction Often affects hands/feet with poor band syndrome formation of the digits distally Generalised skeletal Skeletal dysplasia, e.g. abnormalities achondroplasia

OF THE SKELETON

Although many skeletal abnormalities are identified ante - natally or at birth, others become apparent with growth. Skeletal disorders are often linked to focal or generalised soft-tissue abnormalities; the presence of a skin dimple or a ‘featureless’ limbs of a child with arthrogryposis multiplex congenita (AMC) ( Table 44.4 and Figure 44.5 ). /uni25CF /uni25CF /uni25CF /uni25CF Many anomalies require little treatment and cause minimal functional disability whereas others, such as proximal femoral focal deficiency (PFFD), pose considerable challenges to both the patient and their doctors. In these cases the functional and cosmetic needs of the child and family must be balanced against available resources and expertise ( Figure 44.6 ). Despite advances in limb reconstruction techniques there are few high-quality data from skeletally mature patients to support their widespread use. Concurrently , significant advances are occurring with amputation prosthetics, which may result in better patient-reported outcome scores (PROMSs), particularly in certain regions.

TABLE 44.4 Classi /f_i cation of congenital limb malformations. Category Example Failure of formation of parts Transverse Congenital amputation of the forearm/lower limb Longitudinal Fibula hemimelia Failure of differentiation Radioulnar synostosis; vertebral body fusion Duplication Extra digits Overgrowth Gigantism; macrodactyly Undergrowth Congenital constriction Often affects hands/feet with poor band syndrome formation of the digits distally Generalised skeletal Skeletal dysplasia, e.g. abnormalities achondroplasia