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136 Possible Causes for Hearing Impairment, Scoliosis, Thick Facial Skin

  • Cerebral Palsy

    scoliosis.[doi.org] impairment, gastro-oesophageal reflux and constipation, learning and behavioural difficulties) which require close multi-disciplinary teamwork.[discovery.ucl.ac.uk] Side effects from medications include: xerostomia, thick mucoid secretions, dehydration, urinary retention, urinary tract infections, constipation, facial flushing, skin rash[doi.org]

  • Mucopolysaccharidosis 2

    Figure 2: showing dorso lumbar scoliosis with anterior breaking at D12, L1,2,3 with ovoid shaped vertebra. Figure 3: shows X ray skull with calvarial thickening.[omicsonline.org] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd10data.com] 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]

  • Mucopolysaccharidosis 1

    Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[genedx.com] Hearing impairment. Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Physical Examination Appearance Short stature with disproportionately short trunk ( dwarfism ) Skin Thickened skin Excessive body hair growth HEENT Coarse or rough facial[wikidoc.org]

  • Coffin-Lowry Syndrome

    […] episodes (SIDEs), facial characteristics that include wide set eyes, short nose with wide columella, full and everted lips with wide mouth and progressive skeletal changes: scoliosis[ncbi.nlm.nih.gov] Audiological tests revealed profound hearing impairment. Anomalous labyrinths were shown by CT scan of the temporal bones.[ncbi.nlm.nih.gov] Facial features include prominent forehead, widespread eyes, downslanting eyeslits, prominent ears, thick lips and irregular/missing teeth.[medicinenet.com]

  • Woodhouse Sakati Syndrome

    […] dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis[orpha.net] The syndrome is characterized by alopecia, mental retardation, hypogonadism, diabetes mellitus, hearing impairment, ECG changes, and by autosomal recessive inheritance.[ncbi.nlm.nih.gov] […] patches of thick, darker, velvety skin .[maria-online.com]

  • Lytic Bone Lesion

    (mostly in adolescents and adults) secondary to stretching of the cranial nerves, and generalized osteoporosis resulting in biconcave vertebrae, vertebral collapse, and scoliosis[orpha.net] impairment Deafness Hearing defect [ more ] 0000365 Hypoplastic 5th lumbar vertebrae Underdeveloped 5th lumbar vertebrae 0008424 Joint hyperflexibility Joints move beyond[rarediseases.info.nih.gov] […] cardiac anomaly / malformation / cardiopathy - Dry / squaly skin / exfoliation - Facial pain / cephalalgia / migraine - Failure to thrive / difficulties for feeding in infancy[csbg.cnb.csic.es]

  • Phakomatosis Pigmentokeratotica

    Vale T.C....Happle R. 2014 11 An atypical variant of phacomatosis pigmentokeratotica: verrucous epidermal nevus, speckled lentiginous nevus, and Spitz nevus associated with scoliosis[malacards.org] 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] . – 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]

  • Microtia

    Chest wall deformities and thoracic scoliosis after cartilage graft harvesting. Plast Reconstr Surg. 1997; 99 1030-1037 50 Siegert R, Knölker U, Konrad E.[doi.org] 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 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]

  • Mucopolysaccharidosis 1H

    Thoracolumbar kyphosis and scoliosis Kyphotic angle and degree of scoliosis were determined by radiograph of the thoracolumbar spine.[ojrd.biomedcentral.com] Hearing impairment. Mental retardation. Inguinal hernias. Joint stiffness and skeletal deformities Coronary heart disease. Hepatosplenomegaly.[medigoo.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]

  • Hunermann Conradi Syndrome

    We present a 36-year-old female with short stature, rhizomelic and asymmetric limb shortening, severe scoliosis, a sectorial cataract, and no family history of CDPX2.[jhu.pure.elsevier.com] impairment Scoliosis Nystagmus Failure to thrive SOURCES: OMIM ORPHANET MENDELIAN More info about X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA Low match CARDIOFACIOCUTANEOUS[mendelian.co] […] dry skin [5].[cyberleninka.org]

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