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104 Possible Causes for Hearing Impairment, Kyphosis, Thick Facial Skin

  • Mucopolysaccharidosis 1H

    Hearing impairment. Mental retardation. Inguinal hernias. Joint stiffness and skeletal deformities Coronary heart disease. Hepatosplenomegaly.[medigoo.com] Similar changes with localized kyphosis, may occur in the cervical spine.[medcaretips.com] […] hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent forehead with a large tongue, hepatosplenomegaly and skeletal[dx.doi.org]

  • Mucopolysaccharidosis 2

    The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[ncbi.nlm.nih.gov] Patients with MPS II typically exhibit systemic manifestations including a short stature, a specific facial appearance, dysostosis multiplex, a thick skin, inguinal hernia[journals.plos.org] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.com]

  • 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] Physical Examination Appearance Short stature with disproportionately short trunk ( dwarfism ) Skin Thickened skin Excessive body hair growth HEENT Coarse or rough facial[wikidoc.org] Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info]

  • Coffin-Lowry Syndrome

    Eight patients presented with thoracolumbar kyphosis or kyphoscoliosis, with a mean Cobb angle of 45 degrees in the coronal plane and 31 degrees of thoracolumbar kyphosis.[ncbi.nlm.nih.gov] Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth.[medicinenet.com] Audiological tests revealed profound hearing impairment. Anomalous labyrinths were shown by CT scan of the temporal bones.[ncbi.nlm.nih.gov]

  • Microtia

    Similar findings were obtained on a subset of 25 unilaterally hearing-impaired children who satisfied rather stringent criteria for age, hearing level, intelligence, length[doi.org] The morphological observations of fetuses showed anomalies like open eye lid, distorted body axis, kyphosis, skin hemorrhage, drooping wrist, microphthalmia, low set arm,[medical-dictionary.thefreedictionary.com] The Surgery: Skin Graft A very thin skin graft is generally harvested from the thigh or lower abdomen. This graft is ten 1,000’s of an inch in thickness.[earsurgery.org]

  • Lytic Bone Lesion

    […] enlargement (excluding storage disease) - Hydrocephaly - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Intestinal / gut / bowel malrotation - Kyphosis[csbg.cnb.csic.es] impairment Deafness Hearing defect [ more ] 0000365 Hypoplastic 5th lumbar vertebrae Underdeveloped 5th lumbar vertebrae 0008424 Joint hyperflexibility Joints move beyond[rarediseases.info.nih.gov] Some also develop abnormal curvature of the spine ( scoliosis or kyphosis ).[ghr.nlm.nih.gov]

  • Mucopolysaccharidosis 3

    impairment Deafness Hearing defect If a carrier of MPS IIIA is concerned about having an affected child, his/her partner can be screened for the most common mutations known[rarediseases.info.nih.gov] Kyphosis — An abnormal outward curvature of the spine, with a hump at the upper back.[medical-dictionary.thefreedictionary.com] Prominent foreheads, large head circumferences, Coarse thick hair, bushy eyebrows, Thick skin, Full lips, Low thick ears, Low nasal bridge, Full round bellies.[phoenixnestbiotech.com]

  • Cerebral Palsy

    Deformities of the spine—curvature ( scoliosis ), humpback ( kyphosis ), and saddle back (lordosis ) -- are associated with CP.[web.archive.org] Side effects from medications include: xerostomia, thick mucoid secretions, dehydration, urinary retention, urinary tract infections, constipation, facial flushing, skin rash[doi.org] impairment, gastro-oesophageal reflux and constipation, learning and behavioural difficulties) which require close multi-disciplinary teamwork.[discovery.ucl.ac.uk]

  • Fucosidosis

    Her spinal X- rays demonstrated lumbar kyphosis and anterior beaking of lumbar vertebral bodies.[ncbi.nlm.nih.gov] The primary symptoms of Fucosidosis – Type 1 include developmental delays, mental retardation, overall weakness, poor muscle tone, thick skin, rough facial features and excessive[disability-benefits-help.org] Other signs related to fucosidosis include visceromegaly that can affect the spleen, liver, and heart, epilepsy, hearing impairment or total hearing loss, kyphoscoliosis,[symptoma.com]

  • Phakomatosis Pigmentokeratotica

    PubMed CrossRef Google Scholar Onsun N, Inandirici A, Kural Y, Teker C, Atilganoglu U (2007) Phakomatosis pigmentovascularis type II b with bilateral hearing impairment.[link.springer.com] […] spilus) in checkerboard pattern ( Pediatr Dermatol 2011;28:715 ) Subdivided based on presence or absence of extracutaneous abnormalities including: Skeletal : bone cysts, kyphosis[pathologyoutlines.com] . – Salon Méditerranée Management of Giant Naevi of the Face: Review of 44 Cases Treated by Full Thickness Skin Graft, in One Stage or after Expansion 16:50 Clemens Schiestl[cmnexperts.org]

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