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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[] The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[] Oropharyngeal and tracheobronchial deposition of glycosaminoglycans results in airway obstruction due to macroglossia, supraglottic narrowing, and tracheomalacia.[]

  • Mucopolysaccharidosis

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

  • 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%.[] Progressive upper airway disease leads to obstructive sleep apnoea.[] Patients present with severe airway obstructions, cranio-facial abnormalities, short neck, stiffening of the temporomandibular joints, anteriorly positioned larynx, unstable[]

  • 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[] The 4 kyphosis required reoperation, 3 of which were complicated with permanent spinal cord injury. Minor complications affected 6 patients.[] 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[]

  • Achondroplasia

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

  • 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 [[] Patients develop severe dorsal kyphosis or kyphoscoliosis and lumbar lordosis. Synonym: Swiss cheese cartilage syndrome[] obstruction.[]

  • Pierre Robin Syndrome

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

  • Platyspondyly

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

  • 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.[] Lumbar lordosis was obliterated with generalized straightening of spinal curvatures but no obvious kyphosis was noted.[] Tracheostomy triggers ossification and consequent airway obstruction at the tracheostomy site and laryngoscopy triggers temporomandibular joint ankylosis.[]

  • 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[] 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[] Kommerell diverticulum may be asymptomatic or cause symptoms of esophageal or tracheal obstruction.[]

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