Arthrogryposis multiplex congenita in a child with congenital fractures: a case report

Abstract

Background Bruck syndrome is an exceedingly rare form of osteogenesis imperfecta, inherited autosomal recessively and presenting with the concurrence of bone fragility and congenital contractures of large joints. The disease usually progresses relentlessly to result in recurrent fractures, short stature, severe kyphoscoliosis, and susceptibility to recurrent respiratory tract infections. Case presentation The index child was a male newborn to healthy, nonconsanguineous, Sinhalese parents. The child had multiple contractures involving all large joints with pterigium formation in addition to congenital fractures involving left humerus and ulna at birth. The phenotypic features in this child were highly suggestive of Bruck syndrome. Genetic counseling was offered to the parents, although specific genetic testing could not be undertaken due to lack of resources. Bone and skin biopsy were not performed since only palliative care was possible. Over the course, he developed recurrent severe chest infections due to poor muscle tone, weak cough reflex, and pooling of secretions. Unfortunately, he succumbed at the age of 7 months following severe pneumonia. Conclusion The association of arthrogryposis with osteogenesis imperfecta is extremely rare and known as Bruck syndrome. Early diagnosis during the antenatal period is helpful in genetic counseling, assessment of severity, and exploration of therapeutic options

Arthrogryposis multiplex congenita causing hypercapnic respiratory failure and airway obstruction in an adult patient

“…AMC is a rare disorder of new‐borns causing congenital fixed joint contractures. Environmental and genetic causes have been discussed as potential aetiologies 1,2 . Limitations of the movements in foetal‐life, neuromuscular‐diseases, spina‐bifida, muscular‐dystrophy, and sometimes a maternal history of multiple‐sclerosis are also considered as the causes 3 .…”

“…Environmental and genetic causes have been discussed as potential aetiologies. 1 , 2 Limitations of the movements in foetal‐life, neuromuscular‐diseases, spina‐bifida, muscular‐dystrophy, and sometimes a maternal history of multiple‐sclerosis are also considered as the causes. 3 As the joints in the chest wall also can be affected, new‐borns can go into respiratory failure.…”