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325 Possible Causes for Airway Obstruction, Kyphosis, Round Face

  • Mucopolysaccharidosis 2

    […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[ncbi.nlm.nih.gov] Oropharyngeal and tracheobronchial deposition of glycosaminoglycans results in airway obstruction due to macroglossia, supraglottic narrowing, and tracheomalacia.[symptoma.com]

  • Mucopolysaccharidosis

    […] and distal junctional kyphosis angles, and the apical vertebral wedge angle.[ncbi.nlm.nih.gov] Although upper airway obstruction was noted, it resolved with simple airway maneuvers without further airway intervention. 2017 John Wiley & Sons Ltd.[ncbi.nlm.nih.gov] Initial physical examination revealed the presence of a coarse facies, short neck, kyphosis, restricted joint movements and deformities, and cardiac murmur besides a normal[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    An initial kyphosis angle greater than 45 was predictive of progression of more than 10 with sensitivity of 67% and specificity of 88%.[ncbi.nlm.nih.gov] Progressive upper airway disease leads to obstructive sleep apnoea.[patient.info] Patients present with severe airway obstructions, cranio-facial abnormalities, short neck, stiffening of the temporomandibular joints, anteriorly positioned larynx, unstable[omicsonline.org]

  • Prader-Willi Syndrome

    (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[icd9data.com] The 4 kyphosis required reoperation, 3 of which were complicated with permanent spinal cord injury. Minor complications affected 6 patients.[ncbi.nlm.nih.gov] Descriptions of the development of symptoms of upper airway obstruction and sudden death of children with Prader-Willi Syndrome (PWS) while on GH therapy have led to concern[ncbi.nlm.nih.gov]

  • Achondroplasia

    face discussion; 3) edit the list and rate it in a second round.[ncbi.nlm.nih.gov] No worsening of kyphosis was observed 24 months postoperatively.[ncbi.nlm.nih.gov] She had classical symptoms and signs of upper airway obstruction, which is often seen in patients with achondroplasia.[ncbi.nlm.nih.gov]

  • Kniest Dysplasia

    face Circular face Round facial appearance Round facial shape [ more ] 0000311 5%-29% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [[rarediseases.info.nih.gov] Patients develop severe dorsal kyphosis or kyphoscoliosis and lumbar lordosis. Synonym: Swiss cheese cartilage syndrome[medical-dictionary.thefreedictionary.com] obstruction.[ncbi.nlm.nih.gov]

  • Pierre Robin Syndrome

    round face - - Micrognathia - - - - - - - - - - - - - - Bilateral inguinal hernia - - - - - - - - - - - - - - Hand anomalies - Foot abnormality - - - - - Congenital heart[molecularcytogenetics.biomedcentral.com] kyphosis has been encountered in a girl with Pierre Robin sequence.[egms.de] Sixteen cases required active treatment for episodes of airway obstruction associated with cyanosis.[ncbi.nlm.nih.gov]

  • Platyspondyly

    Affected individuals have distinct facial features, including round face, well-defined eyebrows, long eyelashes, bulbous nose with anteverted nostrils, long and prominent[mendelian.co] […] short stature Spondyloepimetaphyseal dysplasia Thoracic kyphosis Coxa vara Lumbar scoliosis Mucopolysacchariduria Stiff neck Lumbar hyperlordosis Osteoporosis Posteriorly[mendelian.co] Obstruction Syndrome (CHAOS), Cloacal Extrophy Sequence, Megacystis-Microcolon- Intestinal Hypoperistalsis Syndrome, Opitz Syndrome, and DiGeorge Syndrome.[books.google.com]

  • Fibrodysplasia Ossificans Progressiva

    There is fixed scoliotic deformity with the primary curvature facing right side at dorsolumbar junction. Associated with it is round kyphotic deformity.[ispub.com] Lumbar lordosis was obliterated with generalized straightening of spinal curvatures but no obvious kyphosis was noted.[ijcasereportsandimages.com] Tracheostomy triggers ossification and consequent airway obstruction at the tracheostomy site and laryngoscopy triggers temporomandibular joint ankylosis.[joacp.org]

  • Neuhauser Syndrome

    The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] 8/15 53 Hypertelorism 10/22 - 10/23 44 Broad nasal root 14/17 - 14/18 78 Micrognatia 19/34 19/35 54 High arched palate 9/34 - 9/35 26 Joint hyperlaxity 10/34 - 10/35 29 Kyphosis[azdoc.site] Kommerell diverticulum may be asymptomatic or cause symptoms of esophageal or tracheal obstruction.[radiopaedia.org]

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