El Belbesy, M., Ismail, S., Kotb, S., El-Hosseiny, H., Abd El Aziz, A. (2003). Genetic Study of Multiple Congenital Contractures (Arthrogryposis Multiplex Congenita). Journal of High Institute of Public Health, 33(1), 195-210. doi: 10.21608/jhiph.2003.201390
Mervat F. El Belbesy; Suzan R. Ismail; Samia M. Kotb; Hassan A. El-Hosseiny; Amal M. Abd El Aziz. "Genetic Study of Multiple Congenital Contractures (Arthrogryposis Multiplex Congenita)". Journal of High Institute of Public Health, 33, 1, 2003, 195-210. doi: 10.21608/jhiph.2003.201390
El Belbesy, M., Ismail, S., Kotb, S., El-Hosseiny, H., Abd El Aziz, A. (2003). 'Genetic Study of Multiple Congenital Contractures (Arthrogryposis Multiplex Congenita)', Journal of High Institute of Public Health, 33(1), pp. 195-210. doi: 10.21608/jhiph.2003.201390
El Belbesy, M., Ismail, S., Kotb, S., El-Hosseiny, H., Abd El Aziz, A. Genetic Study of Multiple Congenital Contractures (Arthrogryposis Multiplex Congenita). Journal of High Institute of Public Health, 2003; 33(1): 195-210. doi: 10.21608/jhiph.2003.201390
Genetic Study of Multiple Congenital Contractures (Arthrogryposis Multiplex Congenita)
1Human Genetics Department, Medical Research Institute, Alexandria University, Egypt
2Department of Orthopedic Surgery, Faculty of Medicine, University of Alexandria, Egypt
Abstract
Arthrogryposis is a term used to describe conditions with multiple congenital contractures involving more than one part of the body. This study was carried out to study different conditions with arthrogryposis and their mode of inheritance that would allow proper diagnosis, management and appropriate genetic counseling. The present study included thirty patients with arthrogryposis attending the Genetic clinic, Medical Research Institute, Alexandria University. Their ages ranged from 2 days to 8.5 years. The male to female ratio was 0.77. The frequency of parental consanguinity was 50%. Abnormal pregnancy history was found in 22 cases [73.3%]. Both upper and lower limb affection was noticed in 28 patients [93.3%], while isolated upper limb affection occurred in one case and isolated lower limb affection in one case. Finger joints were the most commonly affected [90%]. The studied cases were classified into three groups; 1 :patients with 1ry limb involvement, included 6 [20%] cases of amyoplasia, II :patients with limb involvement plus other system anomalies [ included 14 [46.7%]; distal arthrogryposis in 4 [13.3%], multiple pterygium syndrome in 4 [13.3%], congenital contractural arachnodactyly in 3 [10%], Freeman-Sheldon syndrome in 3 [10%] ] and IlI: patients with limb involvement plus CNS dysfunction and/or mental retardation, constituted 10 cases [33.3%]; chromosomal abnormalities in 4 [13.3%] (2 with 47,XX+18, one 46, XY,7q+ and one 46,XY,t[9;13][p11;q11]),Roberts syndrome [2; 6.7%], campomelic dysplasia [1; 3.33%], Walker-Warburg syndrome [1; 3.33%], Pena-Shokeir phenotype [1; 3.33%], adducted thumb syndrome [1; 3.33%]. We concluded that examination of all joints in the upper and lower limbs is the key to the diagnosis in the majority of cases of arthrogryposis. There is marked inter- and intrafamilial variability in many conditions with arthrogryposis. An accurate diagnosis is important in genetic counseling, prevention, management and prognosis.
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