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393 Possible Causes for Ear Deformity, Retrognathia, 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[] […] bruising or bleeding Unusual facial features (which may fade as a child grows), including wide-set eyes, down-slanting eyes, drooping eyelids, arched eyebrows, and low-set ears[] 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.[]

  • Trisomy 18

    Note microphthalmia, micrognathia/retrognathia, microstomia, low set/malformed ears, short sternum, and abnormal clenched fingers.[] […] as low-set and malformed ears, cleft lip and palate, a receding chin, convex soles of the feet, a webbed neck, and fingers bent in a unique configuration.[] neck, and wrist deformity.[]

  • Congenital Mandibular Hypoplasia

    After completion of distraction, retrognathia was corrected in all patients. The "subjective" symptoms had disappeared completely or had been alleviated.[] Vertebral abnormalities: hemivertebra or block vertebra, vertebral hypoplasia, absent ribs, short neck. Midline facial cleft.[] Phelps, PD, Poswillo, D, Lloyd, GA: The ear deformities in mandibulofacial dysostosis (Treacher Collins syndrome) . Clin Otolaryngol 6: 15 – 28 , 1981 .[]

  • Klippel-Feil Syndrome

    The patient had an extremely small mandible, significant retrognathia, and severe limitation of cervical mobility due to cervical vertebral fusion.[] Ear deformities associated with the Klippel-Feil syndrome.[] The short neck and its immobility and instability present a significant challenge for endotracheal intubation.[]

  • 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[] They exhibited hearing impairment, otitis media, fusions of ossicles to the middle ear wall, and deformed stapes.[] 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[]

  • Schinzel-Giedion Syndrome

    […] toes [ more ] 0001845 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia[] The ears were somewhat deformed.[] , and a short neck.[]

  • Mandibulofacial Dysostosis

    Our proband was born at 36 weeks gestation with microcephaly, microcrania, cleft palate, severe retrognathia, oral and pharyngeal dysphagia, bilateral proximal radioulnar[] The third is characterized by fusion of the cervical, lower thoracic, and lumbar vertebrae. [30, 31] Clinical features Patients have a short neck, restriction of neck movement[] These were correlated with induced ear deformities in an animal model that had features characteristic of human mandibulofacial dysostosis.[]

  • 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[] Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[] […] of the auricles ("crumpled ears").[]

  • 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%).[] In addition, the phenotype includes dwarfism with short neck and heart malformations.[] The ears are low-set and the skull may be somewhat misshapen. The hairline in the back of the skull is unusually low. Imaging of the brain reveals multiple deformities.[]

  • 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[] neck Decreased length of neck 0000470 Short phalanx of finger Short finger bones 0009803 Split hand Claw hand Claw hand deformities Claw hands Claw-hand deformities Split-hand[] If the infant is not closing down properly, the lower jaws become more noticeably deficient ( micrognathia or retrognathia ).[]

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