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495 Possible Causes for Retrognathia, Sensorineural Hearing Loss, Short Neck

  • Turner Syndrome

    [ more ] 0000347 Neck pterygia 0009759 Obesity Having too much body fat 0001513 Primary amenorrhea 0000786 Recurrent otitis media Recurrent middle ear infection 0000403 Retrognathia[rarediseases.info.nih.gov] A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature.[ncbi.nlm.nih.gov] OBJECTIVE: Turner syndrome is a well-known cause of sensorineural hearing loss, and the lack of estrogen has been implicated in cochlear dysfunction.[ncbi.nlm.nih.gov]

  • Kniest Dysplasia

    The mandibular retrognathia was pronounced at an early age but improved with growth. At age 11 years the patient had a straight facial skeletal profile.[ncbi.nlm.nih.gov] loss.[ncbi.nlm.nih.gov] Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and[ncbi.nlm.nih.gov]

  • Baraitser-Winter Syndrome 1

    There is retrognathia, a pointed chin, a wide mouth with downturned corners and an everted lower lip, which may be secondary to retrognathia (17/39–44%).[ncbi.nlm.nih.gov] In addition, the phenotype includes dwarfism with short neck and heart malformations.[pediatricneurosciences.com] HEARING LOSS).[bioportfolio.com]

  • Klippel-Feil Syndrome

    The patient had an extremely small mandible, significant retrognathia, and severe limitation of cervical mobility due to cervical vertebral fusion.[ncbi.nlm.nih.gov] The short neck and its immobility and instability present a significant challenge for endotracheal intubation.[ncbi.nlm.nih.gov] The audiological assessment showed a moderate to severe bilateral sensorineural hearing loss.[archivesofrheumatology.org]

  • Spondylocarpotarsal Synostosis

    The craniofacial features were, prominent eyes, hypertelorism, facial asymmetry, retrognathia, coarse and thick scalp hair, ptyrigium colli, (more marked on the right side[scoliosisjournal.biomedcentral.com] Cleft palate and sensorineural or mixed hearing loss are variable manifestations. We have reviewed the literature and present 6 new patients, 2 of them sibs.[ncbi.nlm.nih.gov] neck ; Short nose ; Talipes equinovarus ; Tarsal synostosis Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP ) Mouse Orthologs Flnb (Withdrawn[mousephenotype.org]

  • Schinzel-Giedion Syndrome

    […] toes [ more ] 0001845 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia[rarediseases.info.nih.gov] , and a short neck.[ncbi.nlm.nih.gov] Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor[mendelian.co]

  • Stickler Syndrome

    COL2A1, COL9A1, COL9A2, COL9A3, COL11A1, COL11A2 INDICATIONS FOR TESTING: Orofacial cleft palate, Facial features (malar hypoplasia, broad or flat nasal bridge, and micro/retrognathia[unmc.edu] Note the coxa vara with short, broad femoral necks, the result of epiphyseal dysplasia. Table 1.[iovs.arvojournals.org] Hearing loss was found in 62.9%, mostly mild to moderate when reported. Hearing impairment was predominantly sensorineural (67.8%).[ncbi.nlm.nih.gov]

  • Crouzon Syndrome

    […] intubated the trachea using airway exchange catheter inserted through LMA Fastrach. [10] Our patient had history and features suggestive of difficult airway (high-arched palate, retrognathia[aeronline.org] Patient had short neck and difficulty in turning his neck on both right and left sides.[omicsonline.org] The 13-year-old Japanese boy described here also had dyspnea, facial palsy, sensorineural hearing loss, and skeletal and mental retardation.[ncbi.nlm.nih.gov]

  • Jacobsen Syndrome

    Anesthetic issues related to the care of patients with JS concern airway management secondary to short neck, abnormal mouth shape and micrognathia/retrognathia, a high incidence[jhu.pure.elsevier.com] A woman with psychomotor developmental delay, congenital glaucoma, and distinctive facial features, and a short neck was diagnosed with Jacobsen syndrome (JBS) at age 40 years[ncbi.nlm.nih.gov] hearing loss, scalp defects, urogenital and anorectal anomalies, short stature, and cognitive impairment of variable degree.[science.gov]

  • Congenital Deafness

    […] anomalies, Minor anomalies, occurring 20% occurring 20% Hearing loss Preauricular tag Preauricular pits Lacrimal duct aplasia Renal anomalies Short palate Branchial fistulae Retrognathia[academic.oup.com] In the past, sensorineural hearing loss was referred to as “nerve deafness”.[cochlear.com] Klippel-Feil (KFS) is a congenital anomaly of the cervical (neck) vertebrae. It manifests as a short neck, low hair line and limited neck mobility.[dizziness-and-balance.com]

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