At present, he requires full-time care and assistance and will continue to do so in the future. [ochsnerjournal.org]

Bruck syndrome: neonatal presentation and natural course in three patients. Pediatr Radiol 1998; 28: 781-789. Brady AF, Patton MA. [journals.viamedica.pl]

[…] is less than one in a million and to the best of our knowledge, less than 40 cases are reported in the existing medical literature.3 Herein, we report a 19-year-old primigravida at 38 weeks period of gestation (according to last menstrual period) who presented [casereports.bmj.com]

Here, we present a patient with generalized osteopenia, bilateral femur fracture and congenital joint contractures of distal extremities. Downloads Download data is not yet available. [nepjol.info]

We present a new patient of this syndrome, with frequent fractures, congenital joint contractures, kyphoscoliosis, bilateral clubfoot, and pectus carinatum. The clinical and genetic features of all previously reported cases are also reviewed. [pubmed.ncbi.nlm.nih.gov]

• Collapse

  The X-ray films also revealed severe generalized osteoporosis with wormian bone in cranium, multiple vertebral compression fractures with rotation kyphoscoliosis, collapsed right thoracic cage, deformity of pelvis, slender long bone with thin cortices [journals.plos.org]

• Asymptomatic

  The causative mutations were identified as novel compound heterozygous mutations in FKBP10 and PLOD2, respectively, and their parents are asymptomatic heterozygous carriers for one of the compound mutations. [journals.plos.org]

• Unable to Stand

  Although the fractures healed uneventfully under conservative treatment, he was still unable to stand and walk because of the severe contractures of knees and curvature deformities of femora. [journals.plos.org]

• Osteoporosis

  The clinical and radiological analyses showed the presence of systemic osteoporosis with pathological fractures; contractures of the elbow, knee, and ankle joints; delay of physical and motor development; and signs of hypoplasia in some of the muscle [journals.eco-vector.com]

  BPs are widely used to treat osteoporosis through potent inhibition of osteoclasts [30]. [journals.plos.org]

  In addition to defective type I collagen, manifesting as bone fragility, osteoporosis, and blue sclera, Bruck syndrome is additionally characterized by arthrogryposis with pterygia. Joint contractures are frequently bilateral and severe. [ochsnerjournal.org]

  The main features are osteoporosis, long bone bowing and scoliosis due to vertebral deformities and congenital joint contractures. We describe a French girl who was born with ankle and wrist contractures (second antenatal discovery). © 2007 S. [karger.com]

  A case report]; Arch-Pediatr. 2001 Feb; 8(2): 172-5 Weitzel,-S-H; Percy,-A-J; Transient osteoporosis of the hip associated with pregnancy and osteogenesis imperfecta.; Orthopedics. 2000 Dec; 23(12): 1291-2 Gebken,-J; Brenner,-R; Feydt,-A; Notbohm,-H; [malattierare.regione.veneto.it]

• Suggestibility

  We suggest using a current version of Chrome, FireFox, or Safari. DOID:0060231 - Bruck syndrome Disease Ontology Definition: A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. [xenbase.org]

  […] underlying osteogenesis imperfecta.4 If a fetus is seen to have features suggestive of AMC and osteogenesis imperfecta, one should consider Bruck syndrome. [casereports.bmj.com]

  The aim of this report is to make the readers aware regarding this rare entity and to specifically look for presence of features suggestive of osteogenesis imperfecta when encountered with a neonate born with arthrogryposis multiplex congenita. [link.springer.com]

  Bruck in 1897 [3], Viljoen et al. suggested that the disorder be called Bruck syndrome. To the best of our knowledge, 27 cases of BS have been reported in the literature so far. [journals.viamedica.pl]

  Caparrós-Martin JA, Valencia M, Pulido V, Martínez-Glez V, Rueda-Arenas I, et al. (2013) Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations [journals.plos.org]

To date, she has had approximately 15 known fractures, none of which have required operative treatment. [ochsnerjournal.org]

(A)–(B) BMD and Z score were increased at L2–L4 after bisphosphonates treatment. BMD and Z score at proximal femur was decreased after 16 months of ALN treatment but was significantly increased after 7 months of ZOL treatment. [journals.plos.org]

However, the above treatments cannot reverse the severity of BS and the progression of scoliosis, and the curative effect of these treatments on some patients with BS is poor. [frontiersin.org]

L; Osteogenesis imperfecta: practical treatment guidelines.; Paediatr-Drugs. 2000 Nov-Dec; 2(6): 465-88 Ziyeh,-S; Berger,-R; Reisner,-K; MRI-visible pericochlear lesions in osteogenesis imperfecta type I.; Eur-Radiol. 2000; 10(10): 1675-7 Cassella,- [malattierare.regione.veneto.it]

Summary of Phenotypic Differences Between the Siblings Bruck syndrome tends to have a worse prognosis than osteogenesis imperfecta because the multiple joint contractures complicate functional ability and fracture healing. [ochsnerjournal.org]

Because multiple joint contractures may increase the incidence of fracture and complicate fracture healing, the prognosis of BS patients with severe joint contracture may be worse (4). [frontiersin.org]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]

Caregivers should be educated regarding the preventive measures like gentle handling, padding of beds, etc to prevent further fractures in a case of Bruck syndrome. [casereports.bmj.com]

FKBP65 prevents premature cross-links between procollagen chains and assists proper registration, folding into the collagen triple helix, and subsequent trafficking [19], [20]. [journals.plos.org]

For patients with BS, reducing the incidence of fractures, preventing severe bone deformities, promoting growth, and improving the quality of life are the main treatment objectives. [frontiersin.org]