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3,721 Possible Causes for Erlenmeyer Flask Deformity of the Femur, Hearing Impairment, Thick Facial Skin

  • Mucopolysaccharidosis 2

    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] They also had characteristic features of Hunter syndrome such as stunted growth, coarse facial features (large forehead, thick neck, tongue and lips, bushy eyebrows, and flattened[mjdrdypu.org]

  • Mucopolysaccharidosis

    During 36 months of ERT, symptoms typical of MPS VI including short stature, progressive dysmorphic facial features, hepatosplenomegaly, hearing impairment, corneal clouding[ncbi.nlm.nih.gov] impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may include the following[emedicine.medscape.com] The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema.[icd9data.com]

    Missing: Thick Facial Skin
  • Otitis Externa

    The following are the more common signs and symptoms of otitis externa: Otalgia Erythema Pruritus Fluid discharge from the ear (pus) Hearing impairment Swelling of the affected[symptoma.com] […] may become red, thickened, crusty and hyperpgimented from scratching intense itch Psoriasis Commonly associated with scalp involvement but rarely facial involvement Raised[dermnetnz.org] The invasive process may lead to skull base osteomyelitis with progressive cranial nerve palsies and can result in irreversible hearing and neurological impairment.[ncbi.nlm.nih.gov]

    Missing: Erlenmeyer Flask Deformity of the Femur
  • Acute Otitis Externa

    Symptoms include ear discomfort, itchiness, discharge and impaired hearing.[ncbi.nlm.nih.gov] […] may become red, thickened, crusty and hyperpgimented from scratching intense itch Psoriasis Commonly associated with scalp involvement but rarely facial involvement Raised[dermnetnz.org] Hearing may be impaired. Bacterial infection is common.[patient.info]

    Missing: Erlenmeyer Flask Deformity of the Femur
  • 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 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] Microtia is often associated with impaired hearing and or total loss of hearing.[ncbi.nlm.nih.gov]

    Missing: Erlenmeyer Flask Deformity of the Femur
  • Chronic Otitis Externa

    Signs and symptoms range from ear discomfort, pruritus, otorrhoea and conductive hearing impairment to severe pain, occlusive oedema of the canal and systemic effects.[gponline.com] […] disease Commonly associated with scalp involvement but rarely with facial involvement Raised, red lesions with thick, silvery-white adherent scale Often pruritic Seborrheic[aafp.org] Severe or chronic otitis media may permanently affect hearing (Papp et al, 2003) and be associated with dizziness.[dizziness-and-balance.com]

    Missing: Erlenmeyer Flask Deformity of the Femur
  • Osteopetrosis

    Densely sclerotic bone with erlenmeyer flask deformity of the femurs with under- tubulularization (lack of trabeculation) block femoral meatphyses. 17.[slideshare.net] Osteopetrosis is a rare inherited metabolic bone disorder characterized by extensive sclerosis of skeletons, visual and hearing impairment, hepatosplenomegaly and anemia.[ncbi.nlm.nih.gov] Distal end of the femur exhibited absence of normal contour and presented with flask shaped enlargement termed as "Erlenmeyer flask deformity" [Figure 8].[jclpca.org]

    Missing: Thick Facial Skin
  • Cerebral Palsy

    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] Because children with CP may have associated deficits of mental retardation, ophthalmologic and hearing impairments, speech and language disorders, and oral-motor dysfunction[ncbi.nlm.nih.gov]

    Missing: Erlenmeyer Flask Deformity of the Femur
  • Lytic Bone Lesion

    […] cardiac anomaly / malformation / cardiopathy - Dry / squaly skin / exfoliation - Facial pain / cephalalgia / migraine - Failure to thrive / difficulties for feeding in infancy[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] Clinically, all neonates are hearing impaired from birth and develop diffuse PPK in childhood. Leukonychia and hyperkeratoses over the joints of the hand also appear.[emedicine.medscape.com]

    Missing: Erlenmeyer Flask Deformity of the Femur
  • Coffin-Lowry Syndrome

    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] Other features may include hearing impairment, awkward gait, and heart and kidney involvement. Onset in postnatal period.[whonamedit.com]

    Missing: Erlenmeyer Flask Deformity of the Femur

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