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18,593 results
  • Spondylocostal Dysostosis Associated with Split Spinal Cord and Other Malformations. [Journal Article]
    Pediatr Neurosurg 2019; :1-8Milić I, Milić M, … Marinković S
  • Spondylocostal dysostosis is a very rare combination of complex vertebra and rib malformations, accompanied occasionally by other disorders. A 3-year-old girl presented kyphoscoliosis, foot deformities, gate disturbance, and urinary incontinence. The CT and MRI examination revealed kyphosis and scoliosis with a double curve, some absent, broadened, bifurcating and fused ribs, hemivertebrae, butte…
  • Virtual 3D planning of osteotomies for craniosynostoses and complex craniofacial malformations. [Journal Article]
    Neurochirurgie 2019Laure B, Louisy A, … Pare A
  • CONCLUSIONS: Computer-assisted surgery is revolutionizing the surgical approach to complex craniofacial malformations, as well as easing management of less complex ones. It is likely that in the years to come this technique will supersede previous ones. However, using this technique implies being willing to rely on a non-human device. We need to consider computer-assisted surgery as a tool that can change surgical practices. The surgeon can rely on it, yet nothing will replace his/her eye and experience. It is the combination of both this experience and the appropriate use of computer-assisted surgery that, ultimately, leads to successful surgery.
  • Clinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study. [Journal Article]
    JBMR Plus 2019; 3(8):e10214Jha S, Cowen EW, … Bhattacharyya T
  • Melorheostosis is a rare dysostosis involving cortical bone overgrowth that affects the appendicular skeleton. Patients present with pain, deformities, contractures, range of motion limitation(s), and limb swelling. It has been described in children as well as adults. We recently identified somatic mosaicism for gain-of-function mutations in MAP2K1 in patients with melorheostosis. Despite these a…
  • An In Vitro Human Segmentation Clock Model Derived from Embryonic Stem Cells. [Journal Article]
    Cell Rep 2019; 28(9):2247-2255.e5Chu LF, Mamott D, … Thomson JA
  • Defects in somitogenesis result in vertebral malformations at birth known as spondylocostal dysostosis (SCDO). Somites are formed with a species-specific periodicity controlled by the "segmentation clock," which comprises a group of oscillatory genes in the presomitic mesoderm. Here, we report that a segmentation clock model derived from human embryonic stem cells shows many hallmarks of the mamm…
  • Butterfly Vertebrae: A Systematic Review of the Literature and Analysis. [Review]
    Global Spine J 2019; 9(6):666-679Katsuura Y, Kim HJ
  • CONCLUSIONS: This study is the largest collection of butterfly vertebrae cases to date. Butterfly vertebrae are associated with spinal deformity and multiple butterfly vertebrae may indicate a syndromic illness. Low back pain or disc herniation may occur with lumbar butterfly vertebrae however the etiology of this phenomena has not been rigorously explained. Many diseases and syndromes are associated with butterfly vertebrae.
  • [Crouzon syndrome with secretory otitis media: a case report and literature review]. [Case Reports]
    Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2019; 33(9):845-847Chen J, Li W, … Zha DJ
  • Summary Clinical data from a case of Crouzon syndrome with secretory otitis media in our department was collected and the related literatures were reviewed. Whole exome sequecing and Sanger sequencing were performed to analyze genetic cause. The 6-year old patient with Crouzon syndrome had snoring and mouth breathing during sleep for 2 years, and was found hearing loss for 2 weeks. The results of…
  • Mandibulofacial dysostosis with microcephaly: a syndrome to remember. [Journal Article]
    BMJ Case Rep 2019; 12(8)Silva JB, Soares D, … Santos H
  • Mandibulofacial dysostosis with microcephaly (MFDM) is a rare condition that causes abnormalities of the head and face. Other major extracranial malformations may also be found. The authors present a case of an MFDM in a 35 weeks newborn with antenatal growth restriction. The patient required resuscitation at birth and was diagnosed with oesophageal atresia with tracheoesophageal fistula at day 1…
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