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589 Possible Causes for Open Metopic Suture, Overfolded Superior Helix, Pallor of Optic Disc

  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[findzebra.com] disc pallor 0000543 Ovoid vertebral bodies 0003300 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Single transverse palmar crease 0000954 Sparse and[rarediseases.info.nih.gov] disc pallor Not very common - Between 30% and 50% cases Microdontia Commonly - More than 50% cases Specific learning disability Not very common - Between 30% and 50% cases[mendelian.co]

  • FGFR2-Related Bent Bone Dysplasia

    NIH Rare Diseases : 53 Bent bone dysplasia syndromeis an often lethal skeletal disorder characterized by poor mineralization of the skull (calvarium), craniosynostosis, underdeveloped (hypoplastic) pubic bone (pubis) and clavicles, osteopenia, and bent long bones. Unusual facial features include low-set ears, widely[…][malacards.org]

    Missing: Pallor of Optic Disc
  • Optic Atrophy

    Differential Diagnosis Optic atrophy versus other causes of optic disc pallor: • Pallor of optic disc in partial optic atrophy must be differentiated from other causes of[slideshare.net] […] of optic disc eicd10 377.15 Partial optic atrophy Temporal pallor of optic disc eicd10 377.16 Hereditary optic atrophy Optic atrophy: dominant hereditary Leber's[icd9cm.chrisendres.com] CONCLUSIONS: Deeply buried ODD may be associated with NAION causing irreversible visual loss and optic disc pallor, a condition easily mistaken for atypical ON.[ncbi.nlm.nih.gov]

    Missing: Open Metopic Suture Overfolded Superior Helix
  • Papilledema

    Atropic Papilledema  Onset of optic disc pallor (secondary optic atrophy) .  Decrease in disc haemorrhage.  Narrowing of blood vessels and their ensheating.  Optic disc[slideshare.net] Cranial sutures, especially the metopic and sagittal sutures, often close prematurely.[disorders.eyes.arizona.edu] disc elevation and blurred margins, but no hemorrhages or cotton wool spots In atrophic phase (optic nerve axons have died), optic disc shows mixture of pallor and swelling[kellogg.umich.edu]

    Missing: Overfolded Superior Helix
  • Primary Optic Atrophy

    Differential Diagnosis Optic atrophy versus other causes of optic disc pallor: • Pallor of optic disc in partial optic atrophy must be differentiated from other causes of[slideshare.net] optic atrophy Inclusion term(s): Temporal pallor of optic disc H47.291 Other optic atrophy, right eye H47.292 Other optic atrophy, left eye H47.293 Other optic atrophy, bilateral[icd10coded.com] F igure 1. ( A ) Right optic disc of patient 6 with diffuse pallor and nerve fiber layer loss. ( B ) Left optic disc of patient 14 with wedge-shaped temporal pallor reminiscent[iovs.arvojournals.org]

    Missing: Open Metopic Suture Overfolded Superior Helix
  • Kleiner Holmes Syndrome

    superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal teeth; Bell-shaped thorax; Hypoplastic clavicles; Decreased mineralization[panelapp.genomicsengland.co.uk] metopic suture; Midface hypoplasia; Micrognathia; Low-set ears; Overfolded superior helix; Deficient auricle; Hypertelorism; Megalophthalmos; Gingival hyperplasia; Prenatal[panelapp.genomicsengland.co.uk] […] mental retardation [; ; ]; #613659:Gastric cancer, somatic [; ; ]; #614592:Bent bone dysplasia syndrome [Open metopic suture; Midface hypoplasia; Micrognathia; Low-set ears; Overfolded[panelapp.genomicsengland.co.uk]

    Missing: Pallor of Optic Disc
  • Craniosytosis Type 4

    Where possible, a digital recording of the optic disc was made using a handheld digital camera (Nidek Inc, Chiyoda, Japan).[jamanetwork.com] All sutures remain open until adulthood, except for the metopic suture which usually closes between 6 and 12 months of age.[childrens.com] Figure 1: (a) X-ray of the skull with fused metopic suture and hypotelorism (b) intraoperative image showing opening up of the metopic suture and reshaped fronto-orbital bandeau[jclpca.org]

    Missing: Overfolded Superior Helix
  • Pallister W Syndrome

    superior helix and small anthelix, sometimes cupped, with preauricular tags (fig 1 ).[jmg.bmj.com] The symptoms usually include microbrachycephaly, synostosis involving chiefly the cranial suture, open sagittal and lamdoid sutures, patent metopic suture, hypertelorism,[whonamedit.com] […] also been a term used to describe this condition. 10 Clinical features EAR ANOMALIES/HEARING LOSS External auricular anomalies in TBS typically include small ears with an overfolded[jmg.bmj.com]

    Missing: Pallor of Optic Disc
  • Foster-Kennedy Syndrome

    The original description of the Foster Kennedy syndrome included the clinical triad of optic disc pallor in one eye, optic disc edema in the other eye, and reduced olfaction[ncbi.nlm.nih.gov] However, the right eye showed slight temporal pallor of the optic disc and a superior temporal field defect was found.[ncbi.nlm.nih.gov] An 11-year-old boy with a juvenile nasopharyngeal angiofibroma developed optic disc pallor in one eye and optic disc edema in the other eye (Foster Kennedy Syndrome [FKS])[ncbi.nlm.nih.gov]

    Missing: Open Metopic Suture Overfolded Superior Helix
  • Autosomal Dominant Optic Atrophy

    […] and temporal pallor of the optic disc.[jhu.pure.elsevier.com] RESULTS: All patients presented bilateral decrease in best-corrected visual acuity and temporal pallor of the optic disc.[ncbi.nlm.nih.gov] RESULTS: The affected individuals all presented with bilateral visual failure and temporal or total pallor of the optic discs.[ncbi.nlm.nih.gov]

    Missing: Open Metopic Suture Overfolded Superior Helix

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