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Doctor insights on: Craniofacial Duplication

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Is a cleft lip and palate caused by mutation, translation, deletion or duplication?

Is a cleft lip and palate caused by mutation, translation, deletion or duplication?

All the above: The genetics for cleft lip and palate is only partially understood. There are a number of genetic mutations (deletions, duplications among them) that can be associated with clefting. There is no single genetic explanation. ...Read more

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Is arnold chiari malformation type one a neural tube defect?

Is arnold chiari malformation type one a neural tube defect?

No: The more accepted term is chiari malformation as arnold-chiari is an older term. This type of malformation is not a neural tube defect, but rather an abnormal migration of the cerebellar tonsils below the level of the foramen magnum (chiari type 1). This defect is attributed to a congenitally small posterior fossa, thus allowing the cerebellar tonsils to migrate downward. ...Read more

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Arnold chiari malformation, what constitutes a botched surgery?

Arnold chiari malformation, what constitutes a botched surgery?

Chiari surgery: Surgery for a chari malformation is rather straight forward - a "botched" surgery is rare, in some rare cases further surgery might be indicated if the symptoms are not resolved - this assumes there were no complications during the procedure. ...Read more

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What chromosomal mutation results in alagille syndrome?

What chromosomal mutation results in alagille syndrome?

ALGS: Alagille syndrome (algs) is a complex multisystem disorder involving primarily the liver, heart, eyes, face, and skeleton. The two genes in which mutations are known to cause algs are jag1 and notch2. Mutations in jag1 are known to cause about 94%-96% of cases of algs. Mutations in notch2 are known to cause algs in 1%-2% of individuals. ...Read more

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Is there funding for cleft palate repairs?

Is there funding for cleft palate repairs?

Cleft palate: You should check with a dental school there are groups of oral surgeons and orthodontist s who specifically spend certain times to do these procedures many times they volunteer their services. ...Read more

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What ?Surgeons fix a ?Complete atrioventricular septal defect?

What ?Surgeons fix a ?Complete atrioventricular septal defect?

Pediatric Cardiac: A thoracic surgeon with experience in congenital cardiac surgery. Usually in pediatric hospitals. ...Read more

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Cardiologists, what are the risks congenital heart defect corrective surgery?

Cardiologists, what are the risks congenital heart defect corrective surgery?

Depends on defect: Many factors contribute to risks of congenital heart disease Very simple defects usually routinely repaired and uneventful. More complex lesions more difficult and intricate to repair. Some fixes require multiple surgeries. Usually should be performed by experienced pediatric cardiac surgeons, Support personell help things run smoothly.Age of child and any associated comorbidities. ...Read more

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Is a neural tube defect a chromosomal mutation or a gene mutation?

Is a neural tube defect a chromosomal mutation or a gene mutation?

Both or neither.: While neural tube disorders can be a genetic mutation (gene is a functional unit of heredity occupying a specific spot--locus--on a chromosome), they occur most commonly in the setting of Folic Acid deficiency during pregnancy--hence prenatal vitamins with folic acid. Ntds occur in 1/1000 births, and range from spina bifida occulta to anencephaly. ...Read more

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Does the Asperger syndrome have xyy chromosome?

Does the Asperger syndrome have xyy chromosome?

Not by definition: Someone with xyy may has asperger's disorder but that is not part of the disorder itself. ...Read more

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Where does the duplication of chromosomes occur?

Where does the duplication of chromosomes occur?

In the gamete: Duplication of chromosomes occurs in the gametes. The gametes are the cells responsible for creation of the egg in women or sperm in men. The process is called meiosis. Duplication of chromosomes actually occurs in two separate phases of meiosis. ...Read more

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Cleft palate and palatine processes for surgery?

Good if needed: Have your orthodontist and your oral surgeon both review your situation. The co-ordination between the 2 of them generally gives better results. ...Read more

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Is williams syndrome a gene or chromosomal mutation ?

Is williams syndrome a gene or chromosomal mutation ?

Microdeletion: Williams syndrome is caused by small loss (deletion) of genetic material from long arm of chromosome number 7. ...Read more

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What does orthognathic surgery for bilateral complete cleft lip and palate involve?

What does orthognathic surgery for bilateral complete cleft lip and palate involve?

Many surgeries : This surgery can include repair of the lip and nose by clipping then sewing the tissues together in the first 6 months of life. The palate (roof of mouth) repair around 12-18 months of age involves sewing the two sides together. A repair of a cleft in the gumline may involve adding bone and orthodontics (braces) usually 9-12 years old. ...Read more

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Is ventricular septal defect waiverable for military service?

Is ventricular septal defect waiverable for military service?

VSD and military: Contact the military physician office or local recruiter to find out this answer. ...Read more

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Would a partial atrioventicular septal defect avsd show on echo in an adult?

Would a partial atrioventicular septal defect avsd show on echo in an adult?

Yes: A partial avsd can be associated with a murmur and yet the patient may have no symptoms. It may not require surgery. It wil depend on the size of the defect and valve issues. A cardiac echocardiogram/doppler study (performed by someone familiar with congential heart defects, such as a board-certified pediatric cardiologist ) can detect the partial avsd. ...Read more

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What is orthognathic surgery for bilateral complete cleft lip and palate?

What is orthognathic surgery for bilateral complete cleft lip and palate?

Clefts and Jaw Sx: In cleft patients, it is common for the maxilla to fail to develop along normal growth patterns, a lot of this has to do with scarring from previous surgeries. In order to correct for this underdevelopment of the upper jaw, orthognathic surgery is performed. Typically, the upper jaw is advanced forward, and because it is a bilateral cleft, it will technically be a three-piece segmental LeFort. ...Read more

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Is XYY syndrome- Sex-linked-yes or no; particular chromosome; recessive or dominant?

Is XYY syndrome-                                 
      Sex-linked-yes or no; particular chromosome; recessive or dominant?

Klinefelter Syndrome: Hi, Klinefelter Syndrome, or XYY syndrome is a syndrome where males have an extra Y chromosome, which makes them 47 XYY rather than 46 XY. It is not a sex-linked, autosomal dominant, nor autosomal recessive disorder. The inclusion of the extra Y chromosome is thought to be a random event, even in cases of 47 XYY mosaicism. Follow this link: http://ghr.nlm.nih.gov/condition/47xyy-syndrome ...Read more

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What type of doctor treats cleft palate / velopharyngeal insufficiency?

Different doctors: It depends on the training of the doctor, not their particular specialty. Oral surgeons, plastic surgeons and ENT surgeons all may have specific training in this, but some pediatric surgeons do, also. It is best to be treated in a multi-disciplinary cleft lip and palate clinic. ...Read more

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