Clubfoot deformity in Down's syndrome. 1995

P R Miller, and K N Kuo, and J P Lubicky
Shriners Hospital for Crippled Children, Chicago, Ill 60635, USA.

The association of Down's syndrome (trisomy 21) with clubfeet has not previously been elaborated. Eight patients with a total of 15 clubfeet were identified for review. Five of these had trisomy 21 noted by chromosomal analysis, and 1 had a mosaic pattern. Two patients did not have chromosomal documentation, but had characteristic features of Down's syndrome. Interestingly, 2 patients had evidence of arthrogryposis as well as Down's syndrome. Four of the 8 patients had other orthopedic anomalies, including scoliosis, atlantoaxial instability, brachydactyly, and coxa valga. All 8 patients had an initial period of casting prior to any surgical intervention. Fourteen of the 15 feet required surgical intervention to afford correction of the deformity. The 6 feet with relatively long-term follow up (average: 5 years) showed that there was 1 excellent, 4 good, and 1 fair result using the criteria of Turco. It appears that, even though Down's syndrome is usually characterized by ligamentous laxity, when clubfeet are associated with this syndrome they are often resistant to nonoperative treatment, and surgical treatment seems to produce an acceptable result.

UI MeSH Term Description Entries
D008297 Male Males
D002370 Casts, Surgical Dressings made of fiberglass, plastic, or bandage impregnated with plaster of paris used for immobilization of various parts of the body in cases of fractures, dislocations, and infected wounds. In comparison with plaster casts, casts made of fiberglass or plastic are lightweight, radiolucent, able to withstand moisture, and less rigid. Fiberglass Casts,Plaster Casts,Plastic Casts,Cast, Surgical,Surgical Cast,Surgical Casts,Cast, Fiberglass,Cast, Plaster,Cast, Plastic,Casts, Fiberglass,Casts, Plaster,Casts, Plastic,Fiberglass Cast,Plaster Cast,Plastic Cast
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D003025 Clubfoot A deformed foot in which the foot is plantarflexed, inverted, and adducted. Equinovarus,Talipes Equinovarus,Clubfeet,Clubfeet, Congenital,Clubfoot, Congenital,Congenital Talipes Equinovarus,Pie Torcido,Congenital Clubfeet,Congenital Clubfoot,Pie Torcidos,Talipes Equinovarus, Congenital
D004314 Down Syndrome A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213) Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005500 Follow-Up Studies Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease. Followup Studies,Follow Up Studies,Follow-Up Study,Followup Study,Studies, Follow-Up,Studies, Followup,Study, Follow-Up,Study, Followup
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012189 Retrospective Studies Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons. Retrospective Study,Studies, Retrospective,Study, Retrospective

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