A severe form of congenital contractural arachnodactyly in two newborn infants
- 1 December 1986
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 25 (4) , 763-773
- https://doi.org/10.1002/ajmg.1320250414
Abstract
Congenital contractural arachnodactyly (CCA) is an uncommon condition characterized by arachnodactyly, dolichostenomelia, kyphoscoliosis, “crumpled” auricles, and flexion contractures at knees, elbows, fingers, and sometimes other joints. The long‐term prognosis for affected individuals is usually relatively good. We report on two newborn infants with severe CCA, both of whom died in the first year of life. One child also had other anomalies not generally associated with this disorder. These observations are consistent with the possibility that CCA is an etiologically and clinically heterogeneous disorder.Keywords
This publication has 18 references indexed in Scilit:
- Congenital contractural arachnodactyly Report of four additional families and review of literatureClinical Genetics, 1985
- An infant with marfanoid phenotype and congenital contractures associated with ocular and cardiovascular anomalies, cerebral white matter hypoplasia and spinal axonopathyEuropean Journal of Pediatrics, 1985
- Congenitale kontrakturelle Arachnodaktylie (CCA-Syndrom) - Eine autosomal dominant erbliche BindegewebserkrankungKlinische Padiatrie, 1983
- Congenital Contractual ArachnodactylyArthritis & Rheumatism, 1979
- Marfan syndrome with contractural arachnodactyly and severe mitral regurgitation in a premature infantThe Journal of Pediatrics, 1978
- Congenital Contractural ArachnodactylyActa Orthopaedica, 1976
- The C.C.A. syndrome (congenital contractural arachnodactyly): A new differential syndrome for Marfan's syndrome and homocystinuriaOral Surgery, Oral Medicine, Oral Pathology, 1975
- The clinical spectrum of congenital contractural arachnodactylyEuropean Journal of Pediatrics, 1974
- Hereditary dysplasia of bone with kyphoscoliosis,contractures, and abnormally shaped earsThe Journal of Pediatrics, 1968
- Ein Fall von Arachnodaktylie mit Schwimmhautbildung und einer eigenartigen OhrmuscheldeformitätEuropean Journal of Pediatrics, 1914