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18,770 results
  • Anaesthetic management of a parturient with spondylothoracic dysostosis. [Journal Article]
    BMJ Case Rep 2020; 13(1)Zbeidy R, Torres Buendia N, Souki FG
  • Spondylothoracic dysostosis is a rare congenital disorder characterised by multiple vertebral malformations, shortening of the spine and fusion of the ribs at the costovertebral junction. These abnormalities create anaesthetic challenges due to difficult airway, severe restrictive lung disease and spine deformity necessitating a multidisciplinary approach and careful perioperative planning. We pr…
  • Imaging diagnosis of Crouzon syndrome in two cases confirmed on genetic studies - with a brief review. [Case Reports]
    Indian J Radiol Imaging 2019 Oct-Dec; 29(4):442-447Grover SB, Bhayana A, … Chellani H
  • Crouzon syndrome is the most common form of craniofacial dysostosis, characterised by a classical triad of abnormal skull shape, abnormal facies, and exophthalmos. The clinically overt dental abnormalities in these patients, distracts clinicians from the developmental neurological defects and therefore this entity remains relatively under - highlighted in radiology literature. We report and highl…
  • Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome. [Journal Article]
    Am J Med Genet A 2019Lemire GT, Beauregard-Lacroix É, … Delrue MA
  • Our objectives were to describe fetal cases of vertebral defects (VD), assess the diagnostic yield of fetal chromosomal analysis for VD and determine which investigations should be performed when evaluating fetal VD. We performed a retrospective chart review for fetuses with VD seen between 2006 and 2015. Cases were identified from CHU Sainte-Justine's prenatal clinic visits, postmortem fetal ske…
  • Cleidocranial Dysplasia in a 10-year-old Child: A Case Report. [Case Reports]
    Int J Clin Pediatr Dent 2019 Jul-Aug; 12(4):352-355Vishnurekha C, Kalaivanan D, … Selvaraj S
  • Cleidocranial dysplasia is a rare congenital anomaly characterized by multiple skeletal defects of which partial or complete absence of clavicles, delayed closure of fontanels with presence of open sutures and multiple wornian bones forms a striking feature. The oral manifestations are delayed exfoliation, delayed or failing eruption of the permanent dentition with multiple supernumerary teeth, p…
  • Catel-Manzke syndrome without Manzke dysostosis. [Case Reports]
    Am J Med Genet A 2019Miller DE, Chow P, … Wenger TL
  • Catel-Manzke syndrome is characterized by hand anomalies, Robin sequence, cardiac defects, joint hyperextensibility, and characteristic facial features. Approximately 40 patients with Catel-Manzke have been reported, all with the pathognomonic bilateral or unilateral hyperphalangy caused by an accessory bone between the second metacarpal and proximal phalanx known as Manzke dysostosis. Here we pr…
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