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273 Possible Causes for Amblyopia, Retrognathia, Short Neck

  • 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] Hypertelorism/telecanthus, abnormally slanted palpebral fissures, abnormal retinal findings, nasolacrimal duct obstruction, anomalous extraocular muscles, amblyopia, and microcornea[ncbi.nlm.nih.gov]

  • 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] Ophthalmology: screening for amblyopia and other associated eye disorders is recommended.[patient.info]

  • Noonan Syndrome

    Apparent ocular hypertelorism and antimongoloid slant of the palpebral fissures, a deep philtrum, and mild retrognathia may also be present.[touchendocrinology.com] 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] Facial features These include the following: Triangular-shaped face Hypertelorism Down-slanting palpebral fissures Ptosis Strabismus (48%) Amblyopia (33%) Refractive errors[emedicine.medscape.com]

  • 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 most common cause of visual impairment was amblyopia, which was present in 21% of patients, followed by optic atrophy in 7%.[ncbi.nlm.nih.gov]

  • 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] Unilateral amblyopia was present in 2 (12.5%) patients. Clubfoot was the most common lower limb defect (7 [43.8%] patients).[ncbi.nlm.nih.gov]

  • Trisomy 4p

    […] share an overlapping phenotypic expression that constitutes pure trisomy 4p syndrome which includes prominent glabella, bulbous nose with flat or depressed nasal bridge, retrognathia[ncbi.nlm.nih.gov] […] asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.[ncbi.nlm.nih.gov] To address his amblyopia and ptosis issues with his eyes we ended up at an Ophthalmologist.[livingthediagnosis.com]

  • Spondylometaphyseal Dysplasia

    Soon after birth he had lowhairline, mild hypertelorism, short neck, frontal bossing, retrognathia, broad hands, and short limbs.[cags.org.ae] Affiliated tissues include bone, and related phenotypes are low-set ears and short neck[malacards.org] Keywords Short Stature Retinitis Pigmentosa Amblyopia Retinal Degeneration Skeletal Dysplasia These keywords were added by machine and not by the authors.[link.springer.com]

  • Congenital Cataract

    Both affected males have brachycephaly, upslanting palpebral fissures, epicanthal folds, highly arched palate, small mouth, and retrognathia.[ncbi.nlm.nih.gov] Dysmorphic features include a short neck, bitemporal narrowing, depressed nasal bridge, and proximal limb shortening.[disorders.eyes.arizona.edu] The treatment of unilateral congenital cataract remains a challenge because form deprivation early in life leads to amblyopia.[ncbi.nlm.nih.gov]

  • Congenital Fibrosis of Extraocular Muscles

    E 26 F CFEOM3 Left Bilateral 2.01 1.05 * 7 E 57 F CFEOM3 Bilateral Bilateral Left high myopia 0.87 * 0.70 * 8 F 15 M CFEOM1 Bilateral Bilateral Congenital facial palsy; retrognathia[iovs.arvojournals.org] She had been diagnosed clinically to have Noonan syndrome several years before and showed features consistent with that syndrome including short stature and short neck [Figure[jpgmonline.com] All patients had decreased best-corrected visual acuity not completely explainable by amblyopia in both the preferred and non-preferred eye.[jhu.pure.elsevier.com]

  • Velocardiofacial Syndrome

    […] associated with the syndrome include loss of muscle tone (hypotonia), small slender stature, tapered hands and fingers, small head circumference (microcephaly), recessed jaw (retrognathia[rarediseases.org] […] and crowded teeth, short broad neck and shield chest with pectus deformity and widely spaced nipples with abnormal fat distribution, heart defect, scoliosis, asymmetric limb[ncbi.nlm.nih.gov] Strabismus was observed in 13% and amblyopia in 6%.[ncbi.nlm.nih.gov]

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