Question 1

my consultant suspects growth disorder possibly beckwith wiedemann or gigantism, why do we have an opthalmologist?

Accepted Answer

Evaluate pituitary: Growth hormone is produced by the pituitary gland, which lies in the brain just behind the eyes.  Over production of GH may be caused by a pituitary tumor, which might cause papilledema or visual field changes.

Question 2

sister died @ 29.diag was meth od.she's 3rd in us born w/ beckwith weidmann.her organs are very enlarged. ex:heart 720gr. consumed 24hrs b4 death. 65mcg/l in blood. can that much kill 24hrs later?

Accepted Answer

Misleading: The amount of a substance in the blood is misleading. The rest of a substance is bound to tissues like fat and protein first then the extra is in the blood, so the extra means so much more in other tissues, also the damage for example to the heart is so much by that time to be enlarged that anymore insult may be unsustainable by the body and it gives in and gives up.

Question 3

how can you expect life to bevwith adhd?

Accepted Answer

It all depends: How your life will be with adhd depends on a number of things:
- is your case mild, moderate, or severe?
- do you have a supportive family (or, if adult, coworkers or better yet "admins" to help you
- are you doing anything to manage it? (this includes medication as well as coaching/planning).
- are you using substances (booze, mj) to cope?

If in doubt, get assessed and get treated, if needed.

Question 4

bad pain in lower left side of back.with left leg pain.could this be kidney related?

Accepted Answer

It is possible: Also could something else, to find out run urine test, if it positive  that confirm it, if it is not look for something else.

Question 5

hows patau syndrome inherited?

Accepted Answer

Not inherited: Patau syndrome, or trisomy 13, is not inherited, in that a baby does not "get it" from either parent.  It is usually caused when the egg does not divide properly at the time of fertilization.  This accident causes a baby to get an extra number 13 chromosome in every one of its cells.  Trisomy 13 is rare, but a very serious condition.  Most babies with it die before birth or shortly after birth.

Question 6

is prader willi syndrome hereditary?

Accepted Answer

Yes and no: Prader-willi syndrome involves early low tone with later overeating and obesity since the person is never full. It is genetic, with ~70% of cases having deletion (missing part) of chromosome 15 and the others having altered parental patterning (genomic imprinting). Although always due to a genetic change, it is rarely inherited and has a low recurrence risk for parents of an affected child.

Question 7

goldenhar syndrome treatment?

Accepted Answer

Birth defect: Congenital birth defect that affects the development of the ear, nose, mandible, and palate.

Question 8

what causes von hippel lindau?

Accepted Answer

Genetic: Von hippel–lindau disease is a genetic condition caused by a mutation of the “von hippel-lindau tumor suppressor” gene on chromosome 3 .It is autosomal dominant.

Question 9

what type of mutation causes alagille syndrome?

Accepted Answer

Autosomal dominant: Alagille syndrome has an autsomal dominant genetic inheritance pattern. It is rare, however, and affects the heart and liver primarily. In 90% of cases, mutations on chromosome 20 that affect the JAG1 gene causes this syndrome. A few people have mutations in a gene called NOTCH2. Defects in these genes are thought to lead to abnormal embryonic development in the affected organs.

Question 10

who discovered patau syndrome?

Accepted Answer

T. Bartholin: Patau syndrome which is a duplication of chromosome 13 was originally described by thomas Bartholin's in 1657.

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Doctor answers about:

Beckwith

A member asked:

My consultant suspects growth disorder possibly beckwith wiedemann or gigantism, why do we have an opthalmologist?

A member asked:

Sister died @ 29.diag was meth od.she's 3rd in us born w/ beckwith weidmann.her organs are very enlarged. ex:heart 720gr. consumed 24hrs b4 death. 65mcg/l in blood. can that much kill 24hrs later?

A member asked:

How can you expect life to bevwith adhd?

A member asked:

Bad pain in lower left side of back.with left leg pain.could this be kidney related?

A member asked:

Hows patau syndrome inherited?

A member asked:

Is prader willi syndrome hereditary?

A member asked:

Goldenhar syndrome treatment?

A member asked:

What causes von hippel lindau?

A member asked:

What type of mutation causes alagille syndrome?

A member asked:

Who discovered patau syndrome?

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