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604 Possible Causes for Coarse Facial Features, Hirsutism, Kyphosis

  • Mucopolysaccharidosis

    […] and distal junctional kyphosis angles, and the apical vertebral wedge angle.[] facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[] […] large tongue, prominent forehead, joint stiffness, and short stature; upper airway obstruction, recurrent ear infections, noisy breathing, and persistent nasal discharge; hirsutism[]

  • Mucopolysaccharidosis 2

    The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[] […] also known as Maroteaux-Lamy syndrome is an error of mucopolysaccharide metabolism characterized by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis[]

  • Mucopolysaccharidosis 1H

    Similar changes with localized kyphosis, may occur in the cervical spine.[] Note his coarse facial features, crouched stance, thickened digits, and protuberant abdomen. Transgenic mice with a targeted disruption of a -L-iduronidase .[] Affected individuals exhibit severe mental retardation , clouding of the corners of the eyes, deafness , hirsutism (hairiness), enlarged liver and spleen , dwarfism with hunched[]

  • 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%.[] Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[] Other manifestations include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[]

  • Acromegaly

    Also, bones and viscera increase in size including nose, cranium, supraorbital ridges, forehead and vertebrae, causing symptoms such as macrognathia, kyphosis, goiter and[] A 30-year-old Filipino man presented with a 11-year history of coarse facial features and progressive enlargement of hands and feet.[] […] growths) Sleep apnea Widened fingers or toes, with swelling, redness, and pain Other symptoms that may occur with this disease: Colon polyps Excess hair growth in females ( hirsutism[]

  • Mucopolysaccharidosis 7

    Finally, there are also very mild cases that are discovered during adolescence or adulthood following presentation with thoracic kyphosis.[] Features of MPS VII are large head coarse facial features large tongue enlarged liver and spleen heart valve abnormalites umbilical hernia may have narrow airways cloudy cornea[] Patient had virilization of the external genitalia with hirsutism and masculine voice. Patient had ambiguous genitalia.[]

  • Mucopolysaccharidosis 6

    […] drome ( mah-rō-tō' lah'mē ), [MIM*253200] an error of mucopolysaccharide metabolism characterized by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis[] Physical Facial features associated with MPS VI include the following: Coarse facial features (Compare the facial features with those of other family members to best appreciate[] [] Skin Hirsutism Patients with MPS III are mentally retarded with severe hirsutism and synophrys.[]

  • Mucopolysaccharidosis 1 H-S

    Patients present in the first years of life with musculoskeletal alterations to different degrees including short stature, multiple dysostosis, thoracic-lumbar kyphosis, progressive[] facial features, hepatosplenomegaly, multiple radiographic evidence of dysostosis multiplex, manifestations of mild valvular heart disease as per echocardiography, and abnormally[] […] meninges and ligaments shortening and widening of long bones pointing of proximal metacarpals widening of anterior ribs (oar-shaped / paddle ribs) and clavicles thoracolumbar kyphosis[]

  • Mucopolysaccharidosis 1S

    In one it was caused by cord compression in the lower dorsal spine 9.5 years after posterior spinal fusion for progressive kyphosis, and in the other by angular kyphosis with[] Individuals with MPS disorders share many similar symptoms such as multiple organ involvement, distinctive “coarsefacial features, and abnormalities of the skeleton especially[] […] short neck, kyphosis of lumbar spine, pigeon chest, widening of wrist, bowing of legs, doubling of malleoli, abdominal distension, umbilical hernia, noisy breathing, and hirsutism[]

  • Mucopolysaccharidosis 3

    Kyphosis — An abnormal outward curvature of the spine, with a hump at the upper back.[] Other symptoms include: Behavioral problems Coarse facial features Diarrhea Full lips Heavy eyebrows that meet in the middle of the face above the nose Sleep difficulties[] The stiff joints, hirsuteness and coarse hair typical of other mucopolysaccharidoses are usually not present until late in the disease.[]

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