Arrhinia - PowerPoint PPT Presentation
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Arrhinia
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Arrhinia A Genetics Presentation by Robin Parker and Alexis Burnham Definition Types Two types of Arrhinia: Total Arrhinia- two non-functioning nasal passages Hemi ... – PowerPoint PPT presentation
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Title: Arrhinia
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Arrhinia
- A Genetics Presentation
- by Robin Parker and Alexis Burnham
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Definition
Arrhinia is defined as the cogenital absence of a
nose
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Types
- Two types of Arrhinia
- Total Arrhinia- two non-functioning nasal
passages - Hemi Arrhinia- one non-functioning nasal passage
Hemi Arrhinia
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Symptoms
- Loss of smell
- Loss of taste
- Respiratory distress
- May also be missing olfactory bulbs and sinuses
- Palatal Abnormalities
- hypogonadotropic hypogonadism with cryptorchidism
- Small or widely spaced eyes
- Digestion Problems
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Causes
- Possible causes include
- Failure of the development of nasal placodes
- Premature fusion of the medial nasal process
- Lack of resorption of nasal epithelial plugs
- Abnormal migration of the neural crest cells
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Location of Defective Gene
- Scientists are still researching the location of
the defective gene - In two cases, chromosome 9 anomalies have been
reported - In one case, a de novo reciprocal translocation
between chromosome 3q13.2 and 12p11.2 were found
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Treatment
- Facial reconstruction
- CT and MRI scans very important to plan surgery
- Treatment of airway obstruction and feeding
difficulties - Canalization of nasal passage or tracheostomy
- Multidisciplinary approach is essential along
with expert neonatal medical and surgical care
for the management
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Medicine
- No real medicine
- Herbal and other Remedies
- Marshmallow Root
- Digestion Ginger Honey Tonic
- Aloe Vera Latex and Leaf Cupules
- Psyllium Seed
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Impact
- Management of disease is difficult
- Can live somewhat normally
- Can not do sports
- Eating is difficult
- Adds to outcast class in some societies
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(No Transcript)
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Bibliography
- http//www.orpha.net/consor/cgi-bin/OC_Exp.php?Ing
ENExpert1134 - http//www.wrongdiagnosis.com/a/arrhinia/glossary.
htm - http//www.ingentaconnect.com/content/apl/spla/200
9/00000043/00000004/art00001 - http//www.shahfacialplastics.com/congenital-anoma
lies.htm - http//www.satemaster.com/encyclopedia/Arrhinia
- http//www.jiaps.com/article.asp?issn0971-9261ye
ar2008volume13issue4spage153epage154aula
stGoyal
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