t nib
27-12-2007, 06:26 AM
Hey guys, I happened upon this just now and it's pretty interesting. has anyone ever heard of it before?
Description:
A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features of the Axenfeld syndrome with oligodontia. Eye anomalies consist of posterior embryotoxon (an opaque ring at the margin of the cornea), a prominent Schwalbe ring, iris adhesion to the Schwalbe line, hypoplasia of the anterior stroma of the iris, and occasional glaucoma. Tooth anomalies include anondontia vera and microdontia.
Other features can be hypoplasia of the malar bones, broad flat nasal root, prominent supraorbital ridges, relative prognathism, and mild telecanthus with or without hypertelorism. There may also be other defects such as short stature, myotonic dystrophy, mental deficiency, brachydactyly, clinodactyly, arachnodactyly, and polydactyly. Inheritance is autosomal dominant but sporadic cases are seen and this suggests a recessive pattern also. When occurring without dental and skeletal defects, it is called the SHORT syndrome. The Axenfeld and Rieger syndromes are suspected of being expressions of the same gene. Quoted from here (http://www.whonamedit.com/synd.cfm/1283.html)
Some more information here (http://www.enotes.com/genetic-disorders-encyclopedia/rieger-syndrome).
http://antiquescientifica.com/dag_man_with_RIEGERS_SYNDROME_detail.jpg
:eek: :eek: :eek:
Description:
A genetically determined syndrome of malformations of the anterior chamber of the eye and the teeth, combining features of the Axenfeld syndrome with oligodontia. Eye anomalies consist of posterior embryotoxon (an opaque ring at the margin of the cornea), a prominent Schwalbe ring, iris adhesion to the Schwalbe line, hypoplasia of the anterior stroma of the iris, and occasional glaucoma. Tooth anomalies include anondontia vera and microdontia.
Other features can be hypoplasia of the malar bones, broad flat nasal root, prominent supraorbital ridges, relative prognathism, and mild telecanthus with or without hypertelorism. There may also be other defects such as short stature, myotonic dystrophy, mental deficiency, brachydactyly, clinodactyly, arachnodactyly, and polydactyly. Inheritance is autosomal dominant but sporadic cases are seen and this suggests a recessive pattern also. When occurring without dental and skeletal defects, it is called the SHORT syndrome. The Axenfeld and Rieger syndromes are suspected of being expressions of the same gene. Quoted from here (http://www.whonamedit.com/synd.cfm/1283.html)
Some more information here (http://www.enotes.com/genetic-disorders-encyclopedia/rieger-syndrome).
http://antiquescientifica.com/dag_man_with_RIEGERS_SYNDROME_detail.jpg
:eek: :eek: :eek: