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556 Possible Causes for Hearing Impairment, Retrognathia, Short Neck

  • Rudiger's Syndrome

    neck, and limb defects affecting the central ray of the hands and feet, compatible with ectrodactyly.[redalyc.org] Additional manifestations include hearing impair- ment and urinary tract anomalies. 1 Our aim was to describe a rare case of siblings affected by EEC syndrome presenting normal[redalyc.org] […] physi- cal examination, it was verified the presence of: bilateral cleft lip and complete cleft palate (involving hard and soft palate), micrognathia, abnormal low-set ears, short[redalyc.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] Other neurological problems can include severe feeding problems, seizures, or visual or hearing impairment.[ghr.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[ncbi.nlm.nih.gov] 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] They exhibited hearing impairment, otitis media, fusions of ossicles to the middle ear wall, and deformed stapes.[ncbi.nlm.nih.gov]

  • Goldberg-Shprintzen Syndrome

    […] prominent forehead Ocular proptosis Widely spaced eyes Downslanted palpebral fissures Malar flattening High narrow palate with prominent palatine ridges Micrognathia and/or retrognathia[ncbi.nlm.nih.gov] Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[orpha.net] An audiological evaluation should be performed in all children with language impairment, including MWS patients [ 19, 34 ].[ojrd.biomedcentral.com]

  • 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] Roux, Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients, Scientific Reports, 10.1038/s41598-017-16846-9, 7, 1,[doi.org]

  • 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] Additional physical findings may include a receding jaw (retrognathia), crossed eyes (strabismus), lazy eyes (amblyopia), drooping eyelids, and a narrow, high-arched roof[rarediseases.org]

  • 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] This study has clearly shown that a large proportion of patients with KFS have hearing impairment.[doi.org]

  • 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] 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] Recurrent otitis media may lead to conductive hearing impairment or hearing loss.[symptoma.com]

  • Moebius Syndrome

    He was noted to have micrognathia, retrognathia, wide nasal bridge, low set ears, high arched palate, nonreducing bilateral talipes equinovarus and bilateral large angle esotropia[ncbi.nlm.nih.gov] Additional unusual features were short neck and torticollis.[doi.org] impairment Deafness Hearing defect [ more ] 0000365 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypogonadotrophic hypogonadism 0000044 Microdontia[rarediseases.info.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] A 24-year-old woman visited our department for evaluation of persistent hearing impairment and absence of an external auditory canal from birth.[ncbi.nlm.nih.gov]

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