OBJECTIVES: We wanted to estimate the birth prevalence of multiple congenital contractures (MCC), determine the cause of the MCC according to the primary level of involvement of the developing motor system, and compare the different groups in terms of inheritance, mortality, and morbidity. STUDY DESIGN: A retrospective epidemiologic study through the screening of registers, reviews of medical records, and clinical re-examinations was performed in western Sweden to identify all the children with MCC born between 1979 and 1994. RESULTS: The birth prevalence of MCC on the basis of 68 cases was 1 in 5100 live births. The majority of cases with cerebral involvement (n = 23), spinal involvement (n = 16), or mechanical restriction (n = 3) were sporadic, whereas most cases with neuromuscular (n = 12) or connective tissue involvement (n = 9) were inherited. The cerebral group was more severely affected compared with the other groups in terms of mortality, joint contractures at birth, feeding difficulties during infancy, and independent walking at follow-up. In 8 cases with myopathy, the joint contractures were normalized on follow-up. CONCLUSION: A search for a specific etiology in each case is important for genetic counseling, prognosis, and therapy because inheritance, mortality, and morbidity differ between the groups.
OBJECTIVES: We wanted to estimate the birth prevalence of multiple congenital contractures (MCC), determine the cause of the MCC according to the primary level of involvement of the developing motor system, and compare the different groups in terms of inheritance, mortality, and morbidity. STUDY DESIGN: A retrospective epidemiologic study through the screening of registers, reviews of medical records, and clinical re-examinations was performed in western Sweden to identify all the children with MCC born between 1979 and 1994. RESULTS: The birth prevalence of MCC on the basis of 68 cases was 1 in 5100 live births. The majority of cases with cerebral involvement (n = 23), spinal involvement (n = 16), or mechanical restriction (n = 3) were sporadic, whereas most cases with neuromuscular (n = 12) or connective tissue involvement (n = 9) were inherited. The cerebral group was more severely affected compared with the other groups in terms of mortality, joint contractures at birth, feeding difficulties during infancy, and independent walking at follow-up. In 8 cases with myopathy, the joint contractures were normalized on follow-up. CONCLUSION: A search for a specific etiology in each case is important for genetic counseling, prognosis, and therapy because inheritance, mortality, and morbidity differ between the groups.
Authors: Claire Chauveau; Carsten G Bonnemann; Cedric Julien; Ay Lin Kho; Harold Marks; Beril Talim; Philippe Maury; Marie Christine Arne-Bes; Emmanuelle Uro-Coste; Alexander Alexandrovich; Anna Vihola; Sebastian Schafer; Beth Kaufmann; Livija Medne; Norbert Hübner; A Reghan Foley; Mariarita Santi; Bjarne Udd; Haluk Topaloglu; Steven A Moore; Michael Gotthardt; Mark E Samuels; Mathias Gautel; Ana Ferreiro Journal: Hum Mol Genet Date: 2013-10-08 Impact factor: 6.150
Authors: Saundra Y Schlesinger; Seongkyung Seo; Brian A Pryce; Sara F Tufa; Douglas R Keene; Alice H Huang; Ronen Schweitzer Journal: Dev Biol Date: 2020-11-25 Impact factor: 3.148