Amorphous Granulofilamentous Material Associated with Z-Discs & Congenital Eye Anomaly & Prominent High Nasal Root: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Amorphous Granulofilamentous Material Associated with Z-Discs, Congenital Eye Anomaly, Prominent High Nasal Root,

Negated

None

Unsure

None

Possible Causes

Rigid Spine Syndrome

Associated distinctive features are dolicocephaly, prominent nasal root, oblique palpebral fissues, high-arched palate, low-set ears, short neck, and clinodactyly. [ncbi.nlm.nih.gov]

It has been emphasized that at autopsy of affected fetuses demonstrable muscle changes may not be observed, while brain and eye anomalies are clearly demonstrated197. [cyberleninka.org]

[…] ocular anomalies are both anterior and posterior chamber eye malformations and frequently lead to retinal detachment and blindness; microphthalmia, buphthalmus, optic nerves [cyberleninka.org]

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Schwartz-Jampel Syndrome

nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Ptosis [rarediseases.info.nih.gov]

Nearsightedness [ more ] 0000545 Osteoporosis 0000939 Overfolded helix Overfolded ears 0000396 Pectus carinatum Pigeon chest 0000768 Platyspondyly Flattened vertebrae 0000926 Prominent [rarediseases.info.nih.gov]

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Hallermann-Streiff Syndrome

Brachycephaly is also a typical feature, but this cannot be determined from the painting. (2) Congenital anomalies of the eyes seen in La Niña include microphthalmia, microcornea [healio.com]

He had an unusually small body, “… a prominent nose, depressed nasal root, high-arched palate, low-set ears, and small mouth…”(Erciyes 130). [hallermann-streiff-awareness.weebly.com]

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Congenital Cataract

We present a Hungarian girl with microcephaly, microphthalmia, congenital cataract, prominent nasal root, peaked nose, micrognathia with high arched palate, mild mental retardation [ncbi.nlm.nih.gov]

Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, FKRP-Related MDDGA5 613153 [ukgtn.nhs.uk]

Congenital malformations of the eye and orbit. Otolaryngol. Clin. North Am. 2007; 40(1):113-40, vii. PMID: 17346564 Ma, AS, et al. [invitae.com]

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Choroid Hemangioma

anomaly whereby the eye is shorter than normal, develops a cataract, and may present with whitening of the pupil. [murraymd.com]

Parents can observe the red reflex can be seen by dimming the room lights and using a flashlight to shine light directly into the child's eyes. [murraymd.com]

[…] a rare cancer, some pediatricians may fail to detect it early enough or sometimes mistakenly diagnose it as: Persistent hyperplastic primary vitreous (PHPV): an unusual congenital [murraymd.com]

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Ectopia Lentis

Category Congenital malformation Brite Human diseases [BR: br08402 ] Congenital malformations Congenital malformations of eye H00662 Ectopia lentis Human diseases in ICD-11 [genome.jp]

Abstract Keratolenticular dysgenesis (KLD) and ectopia lentis are congenital eye defects. [ncbi.nlm.nih.gov]

Intraocular tension was within normal limits in both eyes. General examination did not reveal any congenital anomalies of any system. [ijo.in]

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Hydrophthalmos

Megalocornea with glaucoma Q15.8 Other specified congenital malformations of eye Q15.9 Congenital malformation of eye, unspecified Inclusion term(s): Congenital anomaly of [icd10coded.com]

malformations of eye Q15.0 Congenital glaucoma Q15.8 Other specified congenital malformations of eye Q15.9 Congenital malformation of eye, unspecified Q16 Congenital malformations [icd10data.com]

Synonyms Axenfeld anomaly Axenfelds anomaly Axenfelds anomaly (eye condition) Bilateral congenital glaucoma Buphthalmos of left eye Buphthalmos of right eye Glaucoma of childhood [icd10data.com]

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Congenital Optic Disc Coloboma

Isolated and total optic disc coloboma is a markedly rare congenital anomaly of the eye. [ncbi.nlm.nih.gov]

MGS is a congenital anomaly of eyes characterized with optic disc dysplasia. [dusunenadamdergisi.org]

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Frontonasal Dysplasia

Abstract Frontonasal dysplasia is a rare congenital anomaly affecting the eyes, nose and forehead, and occurs sporadically in most of the cases. [ncbi.nlm.nih.gov]

Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and [ncbi.nlm.nih.gov]

Introduction Frontonasal dysplasia, also known as median cleft syndrome, frontonasal syndrome and frontonasal dysostosis, is a rare congenital anomaly affecting the eyes, [ncbi.nlm.nih.gov]

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Chudley-Rozdilsky Syndrome

[…] contractures Congenital craniosynostosis maternal hyperthyroiditis Congenital cystic eye Congenital cystic eye multiple ocular and intracranial anomalies Congenital cytomegalovirus [personalizedcause.com]

[…] multiplex congenita Congenital mumps Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies Congenital muscular dystrophy Congenital muscular dystrophy [elbiruniblogspotcom.blogspot.com]

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TORCH Syndrome

[…] lesions: microphthalmia cataracts chorioretinitis visceral lesions: pneumonitis myocarditis encephalitis hemolytic anemia bone defects (syphilis) congenital heart anomalies [atlases.muni.cz]

Anterior segment anomalies and retinal dysplasia have been described with muscle-eye-brain disease, Walker–Warburg syndrome, and Fukiyama congenital muscular dystrophy where [nature.com]

[…] fetalis jaundice or hepatosplenomegaly skin rash (various) CNS damage: hydrocephalus (CMV, Toxoplamosis) or microcephaly (rubella) intracranial calcifications, seizures eye [atlases.muni.cz]

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CHARGE Syndrome

A male neonate presented with CHARGE syndrome, a multiorgan genetic disorder involving the Coloboma of the eyes, congenital Heart defects, nasal choanal Atresia, growth and [ncbi.nlm.nih.gov]

CHARGE association acronym denoting a particular grouping of congenital anomalies found together more frequently than otherwise expected. [medical-dictionary.thefreedictionary.com]

CHARGE syndrome is a specific collection of non-randomly occurring congenital anomalies. [ncbi.nlm.nih.gov]

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Cytomegalovirus Infection

Med Microbiol Immunol. 2017 Oct;206(5):347-354. doi: 10.1007/s00430-017-0512-3. Epub 2017 Jul 21. Author information 1 Department of Obstetrics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin Institute of Health, Berlin, Germany. vera.seidel@charite.de.[…] [ncbi.nlm.nih.gov]

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Congenital Exophthalmos

The other common diseases were congenital eye anomalies and congenital glaucoma, with 7 (14. [freethesaurus.com]

Congenital Disorders Kittens can develop a number of congenital ocular anomalies shortly after birth. [pets.thenest.com]

Congenital cataracts, retinoblastoma (eye cancer) and congenital glaucoma entail early treatment in infancy. [freethesaurus.com]

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Stickler Syndrome

The vitreous showed distinct abnormalities consistent with congenital vitreous anomaly of type 1 Stickler syndrome. [ncbi.nlm.nih.gov]

In STL1 eye findings include high myopia ( 3 diopters) that is nonprogressive and detectable in the newborn period, congenital or early onset cataract, congenital vitreous [hindawi.com]

Glaucoma Vitreal anomalies (gel that fills the eye). [en.wikibooks.org]

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Anophthalmos

Four children with severe congenital eye anomalies are described of which three had related symptoms. [ncbi.nlm.nih.gov]

Anophthalmos, microphthalmos, and typical coloboma (AMC) form an interrelated spectrum of congenital eye anomalies that can cause significant visual loss and cosmetic disfigurement [ncbi.nlm.nih.gov]

Abstract Congenital anophthalmos and microphthalmos are rare conditions which can have associated pathology in the second eye and/or systemic anomalies. [ncbi.nlm.nih.gov]

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Septo-Optic Dysplasia

Other ocular malformations were anterior segment dysgenesis in the right eye and congenital cataract or lens abnormality in the left eye. [ncbi.nlm.nih.gov]

G N Dutton, Congenital disorders of the optic nerve: excavations and hypoplasia, Eye, 10.1038/sj.eye.6701545, 18, 11, (1038-1048), (2004). [oadoi.org]

There were no colobomatous lesions and systemic anomalies suggestive of a coloboma syndrome. [ncbi.nlm.nih.gov]

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Retinopathy of Prematurity

Persistent hyperplastic primary vitreous: congenital malformation of the eye. Clin Experiment Ophthalmol. 2009a; 37 :884–90. [ PubMed : 20092598 ] Shastry BS. [ncbi.nlm.nih.gov]

Infant factors included systemic congenital anomalies (14 eases); ocular congenital anomalies (1); birth weight—less than 1500 grams (12), more than 2000 grams (4); neonatal [link.springer.com]

Summary A pathologic analysis of 19 cases of acute retrolental fibroplasia in autopsy eyes from paranatal infants is presented. [link.springer.com]

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Foveal Retinoschisis

Eyes having optic disc anomalies including congenital optic disc pit or coloboma, intrachoroidal cavitation, [10] a history of ocular surgery other than cataract extraction [journals.plos.org]

For both glaucoma patients and healthy controls, eyes with a visual acuity of 3.0 diopters were excluded. [journals.plos.org]

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Fetal Hypoxia

Abstract In 34 parturient women the levels of free epinephrine (E), norepinephrine (NE), and dopamine (D) were determined by a radioenzymatic method using maternal venous and umbilical arterial and venous blood. The study was conducted to investigate the relationship between fetal catecholamines and hypoxia, fetal[…] [ncbi.nlm.nih.gov]

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Ophthalmia Neonatorum

A 3-week-old infant had neonatal ophthalmia neonatorum, treated in a routine manner which rapidly developed into an advanced case of staphylococcal scalded skin syndrome. The infant had sudden onset of widespread erythematous and tender areas of skin with subsequent exfoliation of large surface areas. We[…] [ncbi.nlm.nih.gov]

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Congenital Malformation

Also known as: congenital disorders of the eyes, congenital and developmental eyelid abnormalities, congenital anomalies of the eyes What are congenital malformations of the [nicklauschildrens.org]

740 Anencephalus and similar anomalies 741 Spina bifida 742 Other congenital anomalies of nervous system 743 Congenital anomalies of eye 744 Congenital anomalies of ear face [icd9data.com]

Congenital malformations of the eye, ear, face, and neck were the third most common associated congenital malformations in our study (15.7% of associated congenital malformations [bmcpediatr.biomedcentral.com]

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Congenital Toxoplasmosis

Mediators Inflamm. 2014;2014:910621. doi: 10.1155/2014/910621. Epub 2014 Sep 18. Machado AS 1, Carneiro AC 1, Béla SR 2, Andrade GM 3, Vasconcelos-Santos DV 4, Januário JN 5, Coelho-dos-Reis JG 2, Ferro EA 6, Teixeira-Carvalho A 2, Vitor RW 1, Martins-Filho OA 2 ; Ufmg Congenital Toxoplasmosis Brazilian Group -UFMG-CTBG 5.[…] [ncbi.nlm.nih.gov]

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Congenital Iris Coloboma

Other congenital malformations of anterior segment of eye Q13.81 Rieger's anomaly Q13.89 Other congenital malformations of anterior segment of eye Q13.9 Congenital malformation [icd10coded.com]

malformations of eye, ear, face and neck Approximate Synonyms Bilateral congenital iris coloboma Iris coloboma Left congenital iris coloboma Right congenital iris coloboma [icd10data.com]

[…] corneal opacity Q13.4 Other congenital corneal malformations Inclusion term(s): Congenital malformation of cornea NOS Microcornea Peter's anomaly Q13.5 Blue sclera Q13.8 [icd10coded.com]

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Paramyotonia Congenita

Paramyotonia congenita is an inherited disorder characterized by progressive muscle stiffness with repeated activities and exposure to cold temperatures. It is an autosomal dominant disorder and results from a defect in the gene that encodes the sodium channel associated with muscle contraction (SCN4A). In[…] [symptoma.com]

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Oculocerebrorenal Syndrome

Zimmerman LE, Font RL: Congenital malformations of the eye. JAMA 196:684-692, 1966. 9. [healio.com]

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Velocardiofacial Syndrome

Congenital heart defects or diseases. [syndromepictures.com]

[…] of velocardiofacial syndrome are as follows: Abnormalities of the palate like cleft palate Characteristic facial features like a narrow groove of the upper lip, wide-set eyes [syndromepictures.com]

Learning disabilities and difficulties Significant feeding difficulties Hypocalcemia Conductive or sensorineural hearing loss Deficiencies in growth hormones Renal anomalies [syndromepictures.com]

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Congenital Cytomegalovirus Infection

Cytomegalovirus (CMV) is the most common cause of congenital infection in humans. Some congenitally infected infants will develop sequelae later in life, especially sensorineural hearing loss (SNHL) and mental retardation. There is no generally accepted antiviral therapy for the treatment of symptomatic congenital CMV[…] [ncbi.nlm.nih.gov]

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Cat Eye Syndrome

Cat-eye syndrome is a rare congenital anomaly involving the kidney. It is rarely reported in literature, while renal function has never been studied up to now. [ncbi.nlm.nih.gov]

Cat-Eye syndrome (CES) is a disorder with a variable pattern of multiple congenital anomalies of which coloboma of the iris and anal atresia are the best known. [ncbi.nlm.nih.gov]

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Congenital Syphilis

Two infants with congenital syphilis and persistent hypoglycemia were found to have hypopituitarism. Hypopituitarism should be recognized as a potential complication of congenital syphilis; affected infants with persistent hypoglycemia should receive a prompt evaluation of pituitary function. [ncbi.nlm.nih.gov]

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