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590 Possible Causes for Hydrocephalus, Retrognathia, Short Neck

  • 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] At birth, individuals with this disorder have craniosynostosis, ocular proptosis, midface hypoplasia, choanal atresia, hydrocephalus, and they experience the onset of acanthosis[ncbi.nlm.nih.gov] Patient had short neck and difficulty in turning his neck on both right and left sides.[omicsonline.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] Associated central nervous system abnormalities include occipital cephalocele, Chiari I malformation, syrinx, microcephaly, and hydrocephalus.[ncbi.nlm.nih.gov] The short neck and its immobility and instability present a significant challenge for endotracheal intubation.[ncbi.nlm.nih.gov]

  • 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] Subsequent neuropathology confirmed the hydrocephalus.[jmg.bmj.com] , and a short neck.[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] Unusual facies, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus.[link.springer.com] Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[orpha.net]

  • 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] […] presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus[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]

  • Noonan Syndrome

    Apparent ocular hypertelorism and antimongoloid slant of the palpebral fissures, a deep philtrum, and mild retrognathia may also be present.[touchendocrinology.com] The authors present the case of a 6-year-old male with Noonan syndrome, Chiari malformation type I, shunted benign external hydrocephalus in infancy, and unique cerebrovascular[ncbi.nlm.nih.gov] Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate[ncbi.nlm.nih.gov]

  • Costello Syndrome

    Other clinical features included ptosis, telecanthus, posteriorly rotated ears, deviated nasal septum, dental crowding, retrognathia, slightly large appearing hands without[journals.plos.org] Sequelae of posterior fossa crowding and CBTH included hydrocephalus requiring shunt or ventriculostomy (25%), Chiari 1 malformation (32%), and syrinx formation (25%).[ncbi.nlm.nih.gov] Of primary concern to anaesthesiologists are potential airway difficulties related a short neck, macroglossia, hypertrophied tonsillar and supraglottic tissues, laryngeal[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] […] have been added to the chapters on metabolic disorders, brain injuries, congenital malformations of the brain and skull, cerebellar disorders, brain tumors, phakomatoses, hydrocephalus[books.google.de] In addition, the phenotype includes dwarfism with short neck and heart malformations.[pediatricneurosciences.com]

  • Pelviscapular Dysplasia

    Respiratory insufficiency Downslanted palpebral fissures Nystagmus Pica Humeroradial synostosis Postaxial hand polydactyly Spontaneous abortion Hypoplastic ilia Polydactyly Retrognathia[mendelian.co] […] finger Permanent curving of the pinkie finger 0004209 Dislocated radial head 0003083 Facial hirsutism 0009937 Fibular aplasia Absent calf bone 0002990 Hydranencephaly 0002324 Hydrocephalus[rarediseases.info.nih.gov] Affiliated tissues include bone, skin and eye, and related phenotypes are macrocephaly and short neck NIH Rare Diseases : 54 Cousin syndrome is a rare syndrome characterized[malacards.org]

  • Raine Syndrome

    […] circumference [ more ] 0000252 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Posteriorly rotated ears Ears rotated toward back of head 0000358 Retrognathia[rarediseases.info.nih.gov] neck * Stillbirth * Retarded fetal growth Causes - Raine syndrome Not supplied.[checkorphan.org] […] gross bilateral proptosis with chemosis and bilateral corneal opacities, low set ears, midfacial hypoplasia, hypoplastic nose with bilateral choanal atresia, micrognathia/retrognathia[slideplayer.com]

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