Bruck syndrome is an osteogenesis imperfecta spectrum disorder characterized by congenital contractures with pterygia, bone fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis puighervas, et al. A rare case of bruck syndrome type 2 in siblings with broad. Pterygia limited elbow extension to 90 degrees, and severe lower limb deformities prevented ambulation. Novel mutations in fkbp10 and plod2 cause rare bruck. Twentyseven patients of this syndrome have been reported so far. Presentation mode open print download current view. They suggested that their patients and the patients reported by alanay et al. Bruck syndrome is a rare autosomal recessive condition that presents with many of the symptoms of osteogenesis imperfecta. The symptoms are numerous and depend on the size and location of the vessels involved. Pdf bruck syndrome is an extremely rare disorder featuring the unusual combination of skeletal changes resembling osteogenesis. Pdf the combination of arthrogryposis multiplex congenita and. Mutations in fkbp10 cause recessive osteogenesis imperfecta. Both diseases are uncommon, but concurrence is extremely rare which makes bruck syndrome very difficult to research.
Here we investigated the phenotypes and the pathogenic mutations of three unrelated chinese patients with bruck syndrome. Previously, the disorder was thought to be an autosomal dominant bone dysplasia caused by defects in type i collagen, but in the past 10 years discoveries of novel mainly recessive causative. Instead of the usual 46 chromosomes present in each cell, lejeune observed 47 in the cells of individuals with down syndrome. For language access assistance, contact the ncats public information officer. The combination of arthrogryposis multiplex congenita and osteogenesis imperfecta is extremely rare. In addition to defective type i collagen, manifesting as bone fragility, osteoporosis, and blue sclera, bruck syndrome is additionally characterized by arthrogryposis with pterygia. We have recently shown that fkbp10 previously reported as a novel autosomal recessive oi gene also defines a novel bruck syndrome locus bks3. There are only few reports describing this rare syndrome of multiple fractures and joint contractures that is thought to be a subtype of osteogenesis imperfecta. Bruck syndrome bs is an autosomal recessive disorder which has skeletal features related to osteogenesis imperfecta oi and has traditionally been classified as an oi variant. Bruck syndrome is characterised by the association of osteogenesis imperfecta and congenital joint contractures. According to the genotype, it has been classified into types 1 and 2. Mutations in fkbp10 and plod2 were identified as the underlying genetic defects of bruck syndrome. Bruck syndrome bs is an autosomal recessive syndromic form of osteogenesis imperfecta oi that is characterized by the additional presence of pterygium formation. Bruck syndrome a rare syndrome of bone fragility and joint contracture and novel.
Mar 01, 2020 pubmed is a searchable database of medical literature and lists journal articles that discuss bruck syndrome 2. Novel mutations in fkbp10 and plod2 cause rare bruck syndrome. Osteoblastic differentiation of bone marrow mesenchymal. Bruck syndrome osteogenesis imperfecta congenital joint. Supernumerary nipplesuropathiesbeckers nevus syndrome. Bruck syndrome type 2 is caused by mutations in plod2 encoding. We report the first case of prenatal diagnosis of this syndrome in a fetus at 23. Mutation analysis of another family with bruck syndrome linked to chromosome 17p12 revealed no mutation in plod2, suggesting genetic heterogeneity. We read with interest the recent paper by alanay et al.
Bruck syndrome 1 genetic and rare diseases information. Bruck syndrome 2 variant lacking congenital contractures. We have confirmed that some individuals thought to have bruck syndrome have mutations in fkbp10, we have found that members of a previously published bruck syndrome family in which bone collagen crosslinking was abnormal have missense mutations in fkbp10, and we have demonstrated that bone collagen crosslinks are abnormal in individuals with. Bruck syndrome is characterized as the combination of arthrogryposis multiplex congenita and osteogenesis imperfecta. May 01, 2005 the combination of arthrogryposis multiplex congenita and osteogenesis imperfecta is extremely rare. Joint contractures are frequently bilateral and severe. Mutations in fkbp10 cause recessive osteogenesis imperfecta and bruck syndrome. Mar, 2019 we are committed to sharing findings related to covid19 as quickly and safely as possible.
If you have problems viewing pdf files, download the latest version of adobe reader. Antiphospholipid syndrome aps is a hypercoagulable disorder that results in vascular thrombosis. Arthrogryposis multiplex congenita is a syndrome characterized by the. Bruck syndrome is a recessive disorder featuring congenital contractures in addition to bone fragility. Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis mcpherson and clemens, 1997. Fkbp10 fkbp65 protein, osteogenesis imperfecta and bruck. Abstract plod2 and fkbp10 are genes mutated in bruck syndrome bs, a condition resembling osteogenesis imperfecta oi, but that is also typically associated with congenital joint contractures. Diagnosis bruck syndrome 1 diagnosis of bruck syndrome must distinguish the association of contractures and skeletal fragility. Click on the link to view a sample search on this topic. Nov 24, 2017 bruck syndrome is a rare autosomal recessive form of osteogenesis imperfecta oi, which is mainly characterized by joint contractures and recurrent fragility fractures. Mutations in fkbp10 cause both bruck syndrome and isolated. Bruck syndrome 1 genetic and rare diseases information center.
Bruck syndrome is an autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. A collection of disease information resources and questions answered by our genetic and rare diseases information specialists for bruck syndrome 1. Mutations in the plod2 gene cause autosomal recessive bruck syndrome type 2. Loss of type i collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of bruck syndrome. Bruck syndrome omim %259450 is a rare disorder in which joint contractures are associated with bone fragility and, because of this oilike phenotype, the diagnosis of osteogenesis imperfecta oi is subsequently considered. Bruck syndrome 2 variant lacking congenital contractures and. Bruck syndrome 2 genetic and rare diseases information. This combination is named bruck syndrome, after the discoverer of the first case. Syndrome of inappropriate antidiuretic hormone secretion.
Test osteogenesis imperfectabruck syndrome type ii via the. Gistelinck, charlotte, paul witten, ann huysseune, sofie symoens, fransiska malfait, daria larionova, pascal simoens, et al. Recently, mutations in fkbp10, localised to chromosome 17q21, have been identified in some patients of bruck syndrome. Pubmed is a searchable database of medical literature and lists journal articles that discuss bruck syndrome 2. For a phenotypic description and a discussion of genetic heterogeneity of bruck syndrome, see bruck syndrome1 259450. Abstractbruck syndrome bs is an extremely rare form of osteogenesis imperfecta characterized by congenital joint. This raised the question if the patients in the first report indeed had isolated osteogenesis imperfecta or if bruck syndrome. A rare case of bruck syndrome type 2 in siblings with. Full az list of genetic tests sheffield childrens hospital. Table of contents page 12 case reports in orthopedics. There are 21 reported cases of bruck syndrome bs, a rare autosomal recessive condition characterized by congenital contractures affecting the large joints, generalized osteopenia, and bone fragility. Pdf mutations in fkbp10 cause recessive osteogenesis.
Patients with this condition can have significant morbidity and occasionally mortality. Loss of type i collagen telopeptide lysyl hydroxylation. Pdf the first case of bruck syndrome associated with gastroschisis. Bruck syndrome is characterized by the presence of osteoporosis, joint contractures, fragile. Pubmed is a searchable database of medical literature and lists journal. Kelley, brian p, fransiska malfait, luisa bonafe, et al. Bruck syndrome bs is an extremely rare form of osteogenesis imperfecta characterized by congenital joint contracture, multiple fractures and. Bruck syndrome 1 how is bruck syndrome 1 abbreviated. Jul 01, 2008 the syndrome is genetically heterogeneous. Postnatally the child developed multiple swellings involving. Bruck syndrome a rare syndrome of bone fragility and joint. Bruck syndrome is characterised by the association of osteogenesis. The rarity of this syndrome results in an incomplete description of both the disease characteristics during growth as well as the outcomes of treatment. Osteogenesis imperfecta is a phenotypically and molecularly heterogeneous group of inherited connective tissue disorders that share similar skeletal abnormalities causing bone fragility and deformity.
Two follow up reports found fkbp10 mutations to be associated with bruck syndrome type 1, a rare disorder characterized by congenital contractures and bone fragility. We suggest monitoring the bone density with dexa, nutrition support with vitamin d and calcium, and treatment with bisphosphonates. Prenatal diagnosis of bruck syndrome, prenatal diagnosis. Furthermore, it adds dentinogenesis imperfecta to the spectrum of clinical symptoms associated with fkbp10 mutations. Genomewide homozygosity studies of a large family demonstrated linkage to chromosome 17p12 bs type 1. A characteristic feature of bruck syndrome is the presence of multiple joint contractures that are congenital and the cause of functional impairment in many patients. It was later determined that an extra partial or complete chromosome 21 results in the characteristics associated with down syndrome. Mutations in fkbp10, which result in bruck syndrome and. Bruck syndrome a rare syndrome of bone fragility and. Bruck syndrome is a very rare autosomal recessive syndrome consisting of bone fragility and congenital joint contractures. Mutations in the fkbp10 gene were first described in patients with osteogenesis imperfecta type iii.
Full az list of genetic tests sheffield diagnostic genetics service you can search for a test by typing into the find facility in the toolbar aboveand pressing enter. Fkbp10, which encodes fkbp65, an extracellular matrix binding protein,8 was an attractive candidate in that interval. Jul 01, 2005 bruck syndrome is an autosomal recessive connective tissue disorder combining features of osteogenesis imperfecta and arthrogryposis multiplex congenita. A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes i. After one year of treatment, she had only one frac ture, with slight. Our study demonstrates that fkbp10 mutations not only cause bruck syndrome or osteogenesis imperfecta type iii but can result in a severe type of isolated osteogenesis imperfecta type iv with prenatal onset.