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

[…] 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]

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]

Bilateral thumb-in-palm deformities were presented at birth and then were corrected by an orthopedic surgery at the age of five years. [journals.plos.org]

Due to the rarity of BS, there is no obvious breakthrough in its treatment at present, and the main therapy is roughly the same as that of OI. [frontiersin.org]

• Reduced Fetal Movement

  Bruck syndrome: a rare cause of reduced fetal movements Free http://orcid.org/0000-0002-0022-8983Sabnam Parvin1, http://orcid.org/0000-0002-1794-2569Arkadeep Dhali2, http://orcid.org/0000-0002-0097-3991Dijendra Nath Biswas1 and Sukanta Ray2 1Radiology [casereports.bmj.com]

• Osteoporosis

  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]

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

  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]

• Narrow Pelvis

  […] by heart and (D) narrowed pelvis. [casereports.bmj.com]

• Frontal Bossing

  His skull has normalized since birth, but he remains mildly deformed with plagiocephaly and frontal bossing. [ochsnerjournal.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]