1 Departments of Pediatrics, Orthopedic Surgery and Traumatology, Electrodiagnosis, and Pathology, Beilinson Hospital and Medical Center, Petah-Tikva, and the Government Health Center, Tira, Department of Family Medicine, the Department of Genetics, Tel-Hashomer Hospital, and the Rehabilitation Department, Lowenstein Hospital (all departments associated with the Tel Aviv University Medical School, Tel Aviv, Israel)
An Arab kindred is described in which 17 males and six females had clinical manifestations of arthrogryposis multiplex congenita (AMC). The syndrome, which is present at birth, is expressed mainly by flexion and extension contractures of the knees and elbows, with muscle weakness around the involved joints. Six patients had associated congenital heart disease which caused death in five. One patient was mentally retarted.
Electromyographic studies failed to reveal any participation of the lower motor neurons. Histological and biochemical findings suggest a myogenicetiology.
The pedigree data, being characterized by a very high rate of consanguinity among the parents of the affected and the existence of 20 normal off-spring of three affected males, demonstrate the autosomal recessive mode of inheritance, which is in contrast to the dominant pattern observed in neurogenic AMC.
Submitted on December 29, 1970