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Quoted phrase not found in phrase index: "Multiple prenatal fractures"
Page 1
Current Overview of Osteogenesis Imperfecta.
Deguchi M, Tsuji S, Katsura D, Kasahara K, Kimura F, Murakami T. Deguchi M, et al. Medicina (Kaunas). 2021 May 10;57(5):464. doi: 10.3390/medicina57050464. Medicina (Kaunas). 2021. PMID: 34068551 Free PMC article. Review.
Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder characterised by bone fragility, multiple fractures, bone deformity, and short stature. ...The currently available postnatal treatments for OI are not curative, a …
Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder characterised by bone fragility, multipl …
Amyoplasia revisited.
Hall JG, Aldinger KA, Tanaka KI. Hall JG, et al. Am J Med Genet A. 2014 Mar;164A(3):700-30. doi: 10.1002/ajmg.a.36395. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24459070 Review.
Amyoplasia is a specific type and the most common form of arthrogryposis (multiple congenital contractures). It is a clinical diagnosis at this time. ...Gastrointestinal vascular compromise-type anomalies were present in 9.1% (51/560), trunk muscle defects in another 2.7% …
Amyoplasia is a specific type and the most common form of arthrogryposis (multiple congenital contractures). It is a clinical diagnos …
Guidance for Evaluation and Management of Blunt Abdominal Trauma in Pregnancy.
Greco PS, Day LJ, Pearlman MD. Greco PS, et al. Obstet Gynecol. 2019 Dec;134(6):1343-1357. doi: 10.1097/AOG.0000000000003585. Obstet Gynecol. 2019. PMID: 31764749
Several adverse outcomes can occur in pregnancy, including placental abruption, preterm labor and preterm delivery, uterine rupture, and pelvic fracture. Understanding and integration of key anatomic and physiologic changes in pregnancy are key when evaluating a pregnant t …
Several adverse outcomes can occur in pregnancy, including placental abruption, preterm labor and preterm delivery, uterine rupture, and pel …
Bruck Syndrome: Beyond the Obvious.
Tran CT, Smet ME, Forsey J, Zankl A, Nayyar R. Tran CT, et al. Fetal Diagn Ther. 2022;49(11-12):479-485. doi: 10.1159/000527594. Epub 2022 Dec 7. Fetal Diagn Ther. 2022. PMID: 36476632
INTRODUCTION: Bruck syndrome is a rare autosomal recessive disease characterized by multiple joint contractures, bone fragility, and fractures. Two genes have been associated with Bruck syndrome, FKBP10 and PLOD2, though they are phenotypically indistinguisha …
INTRODUCTION: Bruck syndrome is a rare autosomal recessive disease characterized by multiple joint contractures, bone fragilit …
Fractures at diagnosis in infants and children with osteogenesis imperfecta.
Greeley CS, Donaruma-Kwoh M, Vettimattam M, Lobo C, Williard C, Mazur L. Greeley CS, et al. J Pediatr Orthop. 2013 Jan;33(1):32-6. doi: 10.1097/BPO.0b013e318279c55d. J Pediatr Orthop. 2013. PMID: 23232376 Free PMC article.
All subjects with more than 2 fractures were diagnosed prenatally or in the immediate newborn period. ...The fracture pattern at the time of diagnosis in OI is variable with 10% having more than 2 fractures. ...
All subjects with more than 2 fractures were diagnosed prenatally or in the immediate newborn period. ...The fracture p …
Non-invasive prenatal diagnosis of osteogenesis imperfecta.
Thompson EM. Thompson EM. Am J Med Genet. 1993 Jan 15;45(2):201-6. doi: 10.1002/ajmg.1320450210. Am J Med Genet. 1993. PMID: 8456803 Review.
The main mode of non-invasive prenatal diagnosis of osteogenesis imperfecta (OI) is fetal imaging, either by radiography or detailed ultrasonography. ...The ultrasonic abnormalities which are found include reduced echogenicity, multiple fractures, and deformi …
The main mode of non-invasive prenatal diagnosis of osteogenesis imperfecta (OI) is fetal imaging, either by radiography or detailed …
Accuracy of prenatal diagnosis and prediction of lethality for fetal skeletal dysplasias.
Yeh P, Saeed F, Paramasivam G, Wyatt-Ashmead J, Kumar S. Yeh P, et al. Prenat Diagn. 2011 May;31(5):515-8. doi: 10.1002/pd.2729. Epub 2011 Mar 3. Prenat Diagn. 2011. PMID: 21370244
Perinatal outcome, the accuracy of prenatal diagnosis, and prediction of lethality were ascertained. Lethality was suspected when significant thoracic narrowing, severe micromelia, multiple fractures, or long bone bowing was present. ...Lethality was p …
Perinatal outcome, the accuracy of prenatal diagnosis, and prediction of lethality were ascertained. Lethality was suspected when sig …
Prenatal diagnosis of Bruck syndrome.
Berg C, Geipel A, Noack F, Smrcek J, Krapp M, Germer U, Bender G, Gembruch U. Berg C, et al. Prenat Diagn. 2005 Jul;25(7):535-8. doi: 10.1002/pd.801. Prenat Diagn. 2005. PMID: 16034828 Review.
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. ...Macroscopic and radiologic examination of the aborted fetus confirmed the prenatal diagnosis, …
There are only few reports describing this rare syndrome of multiple fractures and joint contractures that is thought to be a …
Raine syndrome: Prenatal diagnosis based on recognizable fetal facial features and characteristic intracranial calcification.
El-Dessouky SH, Abdel-Hamid MS, Abdel-Ghafar SF, Aboulghar MM, Gaafar HM, Fouad M, Ahmed AH, Abdel-Salam GMH. El-Dessouky SH, et al. Prenat Diagn. 2020 Dec;40(12):1578-1597. doi: 10.1002/pd.5818. Epub 2020 Sep 14. Prenat Diagn. 2020. PMID: 32833257
METHODS: The fetal ultrasonography findings were highly suggestive of RS leading to targeted Sanger sequencing of FAM20C and postnatal assessment. RESULTS: The prenatal ultrasound findings of osteosclerotic skull, exorbitism, hypoplastic nose, midface hypoplasia, small mou …
METHODS: The fetal ultrasonography findings were highly suggestive of RS leading to targeted Sanger sequencing of FAM20C and postnatal asses …
The lesson of temporary brittle bone disease: all bones are not created equal.
Miller ME. Miller ME. Bone. 2003 Oct;33(4):466-74. doi: 10.1016/s8756-3282(03)00211-4. Bone. 2003. PMID: 14555249
Temporary brittle bone disease (TBBD) is a recently described phenotype of multiple, unexplained fractures in the first year of life and predominantly in the first 6 months of life. ...The hypothesis is a prenatal application of the mechanostat/bone …
Temporary brittle bone disease (TBBD) is a recently described phenotype of multiple, unexplained fractures in the first …
48 results