Abstract
Bruck syndrome is a very rare autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. It is considered as a combination of arthrogryposis multiplex congenita and osteogenesis imperfecta, while some consider it as the autosomal recessive variant of osteogenesis imperfecta. According to the genotype, it has been classified into types 1 and 2. To our knowledge, only about 28 patients of this syndrome have been reported so far worldwide with none been reported from Nepal. Here, we present a patient with generalized osteopenia, bilateral femur fracture and congenital joint contractures of distal extremities.
Highlights
Bruck syndrome (BS) is an extremely rare congenital disorder with an incidence of less than 1/1000000. This peculiar illness combines symptoms of osteogenesis imperfect (OI) and arthrogryposis multiplex congenita, presenting with bone fragility manifesting as multiple and recurrent fractures and congenital joint contractures. It has been considered as an autosomal recessive form of osteogenesis imperfecta (OI)[1] while some cases have found to have sporadic mutation
We report a case of Bruck Syndrome, diagnosed clinically and radiologically in a new-born baby admitted in the NIMCU (Neonatal Intermediate Medical Care Unit) ward of Kanti Children’s Hospital which, to our knowledge is the first case to be reported in Nepal so far
Bruck syndrome (BS) is an extremely rare congenital disorder presenting with the combination of symptoms of osteogenesis imperfect (OI) and arthrogryposis multiplex congenita[1], which includes bone fragility manifesting as multiple and recurrent fractures and congenital joint contractures
Summary
Bruck syndrome (BS) is an extremely rare congenital disorder with an incidence of less than 1/1000000. The characteristics of Bruck syndrome include bone fragility leading to multiple and recurrent fractures, congenital joint contractures with or without webbing (pterygia), scoliosis, and osteoporosis They may or may not have blue sclera and usually don’t present with dentinogenesis imperfecta and hearing loss. A 26 days old term but small for gestational age male neonate born from non-consanguineous marriage with birth weight of 1.8 kg and uneventful antenatal history without any exposure to drugs or radiation presented to Emergency Department of Kanti Children’s Hospital with the complaint of fever for three days He had history of bilateral fracture of shaft of femur and flexion deformity of distal parts of all four limbs (Figure 1). During the baby’s stay at NIMCU, orthopedic consultation was done and as per the advice hip spica was applied with physiotherapy planned after three weeks
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