title: Major lower limb congenital shortening: a mini review.
abstract: Major congenital limb deficiencies are rare and the experience of most orthopaedic surgeons of their management will be small. The suggestion of the establishment of special limb deficiency clinics seems a sensible way of collecting the necessary expertise together in one place in order to advise patient and parents on the long-term management, throughout life, of their problems. Advances in imaging have led to prenatal diagnosis, which produces very significant problems in counselling parents before their child is born. More sophisticated methods of imaging after birth such as magnetic resonance imaging allow more accurate assessment of the deficiency. Early classifications based on plain radiology in the first year of life are being superseded by classifications relevant to the modern methods of reconstruction particularly the circular (Ilizarov) fixator. Similarly the remarkable advances in molecular biology are increasing our understanding of the fundamental causes of these deficiencies and the ultimate aim of their prevention. The rapid advances in reconstruction particularly using circular fixators has made reconstruction rather than amputation and a prosthesis possible, particularly in the milder forms of deficiency. However, the surgeon must remember that these conditions represent a field defect so that reconstruction cannot produce a normal limb. One of the hardest things to explain to patients and parents is that however well reconstruction is performed the result is not a normal limb. In the more severe forms of deficiency frequently the best advice is still amputation and a modern prosthesis. For some patients and parents this is very difficult if not impossible to accept. However, life with a good amputation and modern prosthesis may be better than attempting a long and arduous reconstruction, which still results in an abnormal and imperfect limb.
authors.affiliation: Orthopaedic Department, Great Ormond Street Hospital for Sick Children, NHS Trust, London, UK. churcl@gosh.nhs.uk
authors.forename: John A
authors.initials: JA
authors.lastname: Fixsen
mesh_terms: D000671:Amputation, Surgical; D001852:Bone Lengthening; D005260:Female; D006801:Humans; D007870:Leg Length Inequality / Q000601:surgery; D038061:Lower Extremity Deformities, Congenital / Q000145:classification / Q000175:diagnosis / Q000601:surgery*; D008297:Male; D011474:Prosthesis Design; D012720:Severity of Illness Index