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2,319 Possible Causes for Congenital Deafness, Square Prognathic Jaw

  • Smith-Magenis Syndrome

    […] face brachycephaly full cheeks deep-set eyes heavy brows square jaw micrognathia fleshy upper lip bulky philtral pillars prognathism (late feature) short stature failure[en.wikibooks.org] A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.[dx.doi.org] There is striking broadening of the lower jaw, increasing the squareness of the face, with associated prognathism. Midface flattening is accentuated.[jmg.bmj.com]

  • Congenital Deafness

    Congenital deafness is either genetically caused or acquired in utero through maternal lifestyle and/or infection.[symptoma.com] The methods by which congenital deafness soon may be diagnosed and the implications for the otologist are discussed.[ncbi.nlm.nih.gov] We advise that children with congenital deafness be screened for long QT syndrome.[ncbi.nlm.nih.gov]

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  • Bjornstad Syndrome

    Published on 06-Jul-2016 View 221 Download 5 Transcript BRIEF REPORTSPili Torti with Congenital Deafness(Bjornstad Syndrome): A Case ReportF. Loche, M.D.,* P.[documents.tips] We report Bjornstad syndrome in a 5-year-old girl with severe bilateral congenital loss of hearing and pili torti.[ncbi.nlm.nih.gov] When sensorineural deafness is present in such cases, it is apparent at birth (congenital) or within the first year of life.[rarediseases.org]

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  • Fetal Distress in Labor

    OBJECTIVE: To investigate the association between fetal, umbilical and uterine circulatory changes and adverse perinatal findings in very prolonged pregnancies. STUDY DESIGN: 44 women proceeding to 43 completed weeks of gestation with the intention of a trial of vaginal delivery were studied prospectively with[…][ncbi.nlm.nih.gov]

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  • Wolfram Syndrome

    A pair of siblings, followed over 17 years, who manifest congenital or early childhood cataracts, diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.[ncbi.nlm.nih.gov] Abnormalities Abnormalities, Multiple Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities Abnormalities, Multiple Deaf-Blind[hon.ch] Wolfram syndrome is characterized by optic atrophy, insulin dependent diabetes mellitus, diabetes insipidus and deafness.[ncbi.nlm.nih.gov]

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  • Osteogenesis Imperfecta

    NOS High frequency deafness Low frequency deafness congenital H90.5 ICD-10-CM Diagnosis Code H90.5 Unspecified sensorineural hearing loss 2016 2017 2018 2019 Billable/Specific[icd10data.com] Code Applicable To Central hearing loss NOS Congenital deafness NOS Neural hearing loss NOS Perceptive hearing loss NOS Sensorineural deafness NOS Sensory hearing loss NOS[icd10data.com] […] acquired) (complete) (hereditary) (partial) H91.9- ICD-10-CM Diagnosis Code H91.9- Unspecified hearing loss 2016 2017 2018 2019 Non-Billable/Non-Specific Code Applicable To Deafness[icd10data.com]

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  • CHARGE Syndrome

    CHARGE syndrome is one of the leading causes of congenital deafness and blindness in children.[ncbi.nlm.nih.gov] This syndrome is recognised as being the major cause of congenital deafness and blindness. In infected children, neurological disorders increase with age.[icm-institute.org] (CHARGE) syndrome is a disorder with multiple congenital anomalies seen on imaging.[ncbi.nlm.nih.gov]

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  • TORCH Syndrome

    Significant clinical signs in congenital toxoplasmosis include diffuse intracerebral calcification, chorioretinitis, and microcephaly; congenital rubella can result in deafness[ncbi.nlm.nih.gov] RUBELLA In 1941, Gregg discovered that maternal rubella during the first trimester of pregnancy was associated with an increased incidence of cataracts, deafness, and congenital[healio.com] The congenital infected babies show: Exceptionally small size relative to the gestational age (low birth weight). Deafness. Mental retardation. Seizures. Heart defects.[labpedia.net]

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  • Leigh's Disease

    Abstract Nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase (complex I) is the largest multiprotein enzyme complex of the respiratory chain. The nuclear-encoded NDUFS8 (TYKY) subunit of complex I is highly conserved among eukaryotes and prokaryotes and contains two 4Fe4S ferredoxin consensus[…][ncbi.nlm.nih.gov]

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  • Mucopolysaccharidosis

    Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and[…][ncbi.nlm.nih.gov]

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