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369 Possible Causes for Posterior Embryotoxon

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  • Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia

    embryotoxon Walker-Warburg syndrome (236670) Multiple ocular findings including retinal detachment, cataracts, microphthalmia, hyperplastic primary vitreous, optic nerve[] Chorioretinal coloboma, Duane anomaly; both of these are rare Velocardiofacial syndrome (192430) Narrow palpebral fissures, small optic discs, tortuous retinal vessels, posterior[]

  • Papillomas in Perioral, Nasal and Anal Regions

    embryotoxon), facial features (triangular facies, deep set eyes, broad forehead, prominent pointed chin, low set ears), skeletal defects, developmental delay, growth failure[] […] receptor) Alagille syndrome Diagnostic criteria: Bile duct paucity on liver biopsy 3 of the following: Cardiac defects (pulmonary artery, tetralogy of Fallot), eye defects (posterior[]

  • Hermansky-Pudlak Syndrome Type 7

    Similar articles in this journal [Full Text] Eyes: posterior embryotoxon (prominent Schwalbe's ring; anterior chamber def...[] embryotoxon-juvenile glaucoma Rieger's anomaly Rieger's disease Rieger's malformation Geniodysgenesis Iridocorneal mesodermal dysplasia Iris dysplasia-hypodonatia-myotonic[] […] leírása Betegség megnevezésének szinonímái: Rieger syndrome Rieger syndrome (RGS) Rieger anomaly Rieger malformation Dysgenesis mesostromalis anterior Dysplasia marginalis posterior[]

  • Usher Syndrome Type 3B

    Embryotoxon DFNA1 DFNA15 DFNA22/ DFNB37 DFNA25 DFNA2A DFNA36/ DFNB7 DFNA3B/ DFNB1B/ Digenic Deafness DFNA40 DFNA41 DFNA44 DFNA4B DFNA5 DFNA50 DFNA51 DFNA64 DFNA66 DFNA67[] Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 Chudley-McCullough syndrome Combined pituitary hormone deficiency Deafness and Myopia Deafness, Congenital Heart Defects, and Posterior[]

  • Hypertelorism and Tetralogy of Fallot

    Ophthalmic anomalies include posterior embryotoxon (75% of cases), Axenfeld anomaly (see this term), pigmentary retinopathy, papillary and optic disc anomalies.[] PMID 10213047 Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged[] embryotoxon and a peculiar face.[]

  • Axenfeld-Rieger Syndrome Type 3

    The posterior embryotoxon in ARS may be more dramatic and associated with other anterior segment findings, as described above. 13 In some cases, the posterior embryotoxon[] Pedigree 3 had a single affected person with iris hypoplasia and posterior embryotoxon with a mild increase of intraocular pressure.[] Notably, posterior embryotoxon can be a normal finding in up to 10% of the population.[]

  • Autosomal Dominant Deafness 11

    embryotoxon JAG1 jagged 1 Deafness, digenic GJB2/GJB6 220290 GJB6 gap junction protein, beta 6, 30kDa Deafness, digenic, GJB2/GJB3 220290 GJB3 gap junction protein, beta[] […] aqueduct 600791 SLC26A4 solute carrier family 26, member 4 Deafness, autosomal recessive 53 609706 COL11A2 collagen, type XI, alpha 2 Deafness, congenital heart defects, and posterior[]

  • Microphthalmia with Linear Skin Defects Syndrome

    embryotoxon ; Respiratory distress ; Respiratory failure ; Retinal dysplasia ; Retinal dystrophy ; Retrognathia ; Sacral dimple ; Sclerocornea ; Severe short stature ; Specific[] embryotoxon Abnormality of the anus Tricuspid valve prolapse Abnormal nasolacrimal system morphology Epispadias Supraventricular tachycardia Abnormality of earlobe Colpocephaly[] Male pseudohermaphroditism ; Mandibular aplasia ; Microcephaly ; Micrognathia ; Microphthalmia ; Midface retrusion ; Mitral regurgitation ; Mitral valve prolapse ; Mutism ; Posterior[]

  • De Hauwere Syndrome

    embryotoxon Definition Posterior embryotoxon describes a thickened and anteriorly displaced Schwalbe line.[] […] arcuate ring, known as an "embryotoxon". [ 3 ] The iris is commonly adherent to the Schwalbe's line (posterior surface of the cornea).[] […] arcuate ring, known as an "embryotoxon". [5] The iris is commonly adherent to the Schwalbe's line (posterior surface of the cornea).[]

  • Atresia of Urethra

    ., posterior embryotoxon ), facial dysmorphia, heart defects (e.g., peripheral pulmonary stenosis ), skeletal anomalies (e.g., butterfly vertebrae) References: [12] [13] [[]

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