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Congenital ocular coloboma (disorder)

Known as: Coloboma, Ocular, coloboma eye, Coloboma, uveoretinal 
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
National Institutes of Health

Related topics

Related topics

50 relations
3C syndromeCOACH syndromeCOLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESSCONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii

Narrower (25)

Alsing syndromeArima syndromeBaraitser Rodeck Garner syndromeBiemond syndrome II

Papers overview

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2001
2001
Analyse von 180 Patienten mit sensorischem Defektnystagmus (SDN) und kongenitalem idiopathischen Nystagmus (CIN)1 2
Ziel Patienten und Methoden Ergebnisse Diskussion Aim Patients and Methods Results Discussion 
1986
1986
An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts.
Two sisters had developmental retardation and congenital hepatic fibrosis. One, 23 years old, had facial anomalies reminiscent of… 
Review
1983
Review
1983
Sphenoethmoidal cephalocele with cleft palate: transpalatal versus transcranial repair. Report of two cases.
Two cases of sphenoethmoidal encephalocele with cleft palate are reported in detail. The encephaloceles had prolapsed into the… 
1981
1981
The aetiology of the cat eye syndrome reconsidered.
The cat eye syndrome (CES), usually ascribed to the presence of a deleted supernumerary 22 chromosome, is characterised by a… 
1975
1975
Ocular colobomata, cardiac defect, and other anomalies: a study of seven cases including two sibs.
An association of ocular colobomata and congenital heart disease was observed in seven patients. Two of these were maternal half… 
Review
1973
Review
1973
Congenital cardiac disease and the "cat eye" syndrome.
The "cat eye" syndrome is uncommon and is characterized by iridal and choroidal coloboma (giving the appearance of cat eyes… 
1972
1972
The 4p-syndrome.
To the Editor .—We enjoyed the recent article by Guthrie and associates on "The 4p—Syndrome". 1 We should like to point out… 
1971
1971
Cleft lip and chorioideal coloboma associated with multiple hypothalamo-pituitary dysfunctions.
ABSTRACT A 17-year-old male patient is reported who, in addition to cleft lip and GH deficiency, presents with coloboma of the… 
1970
1970
FOCAL DERMAL HYPOPLASIA SYNDROME.
1. Focal Dermal Hypoplasia (FDH), a congenital dysplasia of ectodermal and mesodermal structures, has protean manifestations.2… 
1955
1955
Mechanical changes during accommodation observed by gonioscopy.
It is relatively easy to observe the mechanical changes taking place during accommodation in the centrally located parts of the…