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248 Possible Causes for Macroglossia, Round Face

  • Mucopolysaccharidosis

    However, access to secure the airway and for conventional surgery can be challenging, due to limited neck extension, macroglossia and reduced mouth opening.[] […] hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia[] Beyond neurological, orthopedic, and ophthalmological findings, macroglossia, tonsillar hypertrophy, otitis media and conductive hearing loss, upper airway obstruction, valvular[]

  • Mucopolysaccharidosis 2

    Common signs and symptoms include a large head, full lips, large rounded cheeks, a broad nose, hoarse voice and an enlarged tongue (macroglossia).[] Physical findings: • Coarse facial features; • Narrowing of the cervical spinal canal (spinal stenosis); • Enlarged tongue (macroglossia) and vocal cords; • Enlarged liver[] Between ages 2 and 4, they develop full lips, large rounded cheeks , a broad nose , and an enlarged tongue ( macroglossia ).[]

  • Congenital Muscular Dystrophy

    Additional symptoms may occur including overgrowth (hypertrophy) of the muscles of the legs, an abnormally enlarged tongue (macroglossia), weakness and wasting (atrophy) of[]

  • Mucopolysaccharidosis 1

    Developmental delays, hearing loss and macroglossia contribute to severely reduced language acquisition.[] […] hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia[] IH is the most severe and has an early onset consisting of skeletal deformities, coarse facial features, hepatosplenomegaly, macrocephaly, cardiomyopathy, hearing loss, macroglossia[]

  • Fabry Disease

    Round-robin slide reviews and two face-to-face scoring sessions with a modified Delphi technique [ 23 ] were used to refine the scoring system.[] We report the case of a 50-year-old male FD patient on hemodialysis who presented with macroglossia-related speaking difficulty and gastrointestinal symptoms.[] The scoring matrix was developed and refined in several round-robin slide reviews and face-to-face scoring sessions, using a modified Delphi technique [ 23 ].[]

  • Amyloidosis

    Weight gain and rounded face. Muscle weakness (uncommon when used intermittently as for treating amyloidosis). Vaginal yeast infection.[] The patient then received oral melphalan therapy and surgical intervention for macroglossia.[] The aim of this report is to describe a clinical case of an elderly patient with dysphagia related to macroglossia and enlargement caused by primary amyloidosis associated[]

  • Down Syndrome

    Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[] Dental malocclusion and macroglossia are associated. Technical modifications to increase macroglossia surgery safety and efficacy have been described.[] These include: A round face with a flat profile and small facial features (nose, mouth, ears, and eyes) Protruding tongue Almond-shaped upturned eyes with epicanthus folds[]

  • Juvenile Myxedema

    Clinical features    Stature Shortened finger Osteoma cutis ORAL MANIFESTATIONS   Facial features-mid facial hypoplasia, the face is rounded in appearance Teeth- generalized[] […] frequency of crying Constipation Signs Large fontanelles Myxoedema - with coarse features and a large head and oedema of the genitalia and extremities Nasal obstruction Macroglossia[] ORAL MANIFESTATIONS Symptoms  Teeth  Jaw bone  Palate  Macroglossia  Lips Radiological features  Skull changes  Air sinuses  Teeth  Jaw bone 11.    Surgery- trans[]

  • Zellweger Syndrome

    face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[] Intellectual disability, severe Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ] 0010864 Intrahepatic biliary dysgenesis 0001401 Macroglossia[] Small lung Underdeveloped lung [ more ] 0002089 Renal cortical microcysts 0004734 Rocker bottom foot Rocker bottom feet Rocker-bottom feet Rockerbottom feet [ more ] 0001838 Round[]

  • Chromosome 18p Deletion Syndrome

    […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[] Alongside the commoner signs of the disorder such as IgA deficit, macroglossia, clinodactylism, lid drop, strabismus and slight mental retardation, the young patient also[] Am J Med Genet A 143(16):1858-67. 2007 17BWS, DEL18QD Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiency.[]

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