Rothmund Thomson syndrome

Surgical positions refer to the different positions in which a patient may be placed during a surgical procedure. These positions are carefully chosen to provide the surgeon with the best possible access to the area being operated on, while also ensuring the patient's safety and comfort.

Types of Surgical Positions

There are several common surgical positions, each with its own advantages and considerations.

Supine Position

The supine position is the most common surgical position. In this position, the patient lies flat on their back with their arms at their sides. This position provides good access to the chest, abdomen, and head.

Prone Position

In the prone position, the patient lies on their stomach. This position is often used for surgeries on the back or spine.

Lateral Position

The lateral position involves the patient lying on their side. This position is often used for surgeries on the hip, kidney, or lung.

Lithotomy Position

In the lithotomy position, the patient lies on their back with their legs elevated and spread apart. This position is commonly used for gynecological, urological, and rectal surgeries.

Considerations for Surgical Positions

Choosing the right surgical position is crucial for the success of the surgery. Factors that are considered when choosing a surgical position include the type of surgery, the patient's physical condition, and the surgeon's preference.

Risks and Complications

While surgical positions are designed to maximize safety and efficiency, they can sometimes lead to complications. These can include nerve damage, blood clots, and pressure sores. It is important for the surgical team to monitor the patient closely and make adjustments as necessary to minimize these risks.

See Also

• Surgery
• Operating room
• Anesthesia

Rothmund Thomson syndrome Resources
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Brief summary - Rothmund Thomson syndrome

Rothmund Thomson syndrome (RTS), is a rare autosomal recessive skin condition. There have been several reported cases associated with osteosarcoma. A hereditary basis, mutations in the DNA helicase RECQL4 gene, causing problems during initiation of DNA replication has been implicated in the syndrome.

What are the other names for this syndrome?

• Poikiloderma of Rothmund-Thomson
• Poikiloderma atrophicans and cataract
• Poikiloderma Congenitale

How common is Rothmund-Thomson syndrome?

Rothmund-Thomson syndrome is a rare condition that affects many parts of the body, especially the skin, eyes, bones, and teeth.

What are the signs and symptoms of Rothmund Thomson syndrome?

Signs and symptoms can include:

• a characteristic facial rash (poikiloderma);
• sparse hair,
• eyelashes, and/or eyebrows;
• short stature;
• skeletal (bone) and dental abnormalities;
• cataracts;
• premature aging; and an
• increased risk for cancer, especially osteosarcoma.
• Gastrointestinal problems or blood disorders may also occur.

How is this inherited?

• It is inherited in an autosomal recessive manner and most often caused by changes (mutations) in the RECQL4 gene.
• In some cases, the genetic cause is unknown.

How is this condition diagnosed?

• Molecular genetic testing of the RECQL4 gene (the only gene known to cause Rothmund-Thomson syndrome) is available for people who have been clinically diagnosed or for those with an inconclusive clinical diagnosis.
• Identifying mutations in both copies of this gene establishes the diagnosis.
• However, only about 66% of people (two-thirds) with a clinical diagnosis are found to have mutations.
• In the remaining one-third of people, the genetic cause is unknown.

How is this condition treated?

• Treatment focuses on the specific signs and symptoms present and may include laser treatment for skin abnormalities;
• Surgery for cataracts; and standard treatment for cancer.

How is this transmitted?

• Rothmund-Thomson syndrome is inherited in an autosomal recessive manner.
• This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell.

How likely is Rothmund Thomson to pass on to children?

Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier When an affected person has children: If his/her partner is not a carrier of the condition, each of their children will be an unaffected carrier. If his/her partner is a carrier, each child has a 50% chance to be an unaffected carrier, and a 50% chance to be affected. If his/her partner is also affected, all children will be affected. Given the rarity of Rothmund-Thomson syndrome, the likelihood that an affected person will have children with a carrier is very low.

What parental screening options are available?

If RECQL4 mutations are identified in an affected person, prenatal testing and/or preimplantation genetic diagnosis for a pregnancy at increased risk are possible options. While ultrasounds during pregnancy may detect an abnormality associated with the condition, the absence of abnormalities on ultrasound in a fetus does not exclude the possibility that the fetus is affected.

Does genetic testing registry provide information about this?

The Genetic Testing Registry (GTR) provides information about the genetic tests available for this condition.

FAQS

Can you help answer any of these frequently asked questions on Rothmund Thomson syndrome?

• How common is Rothmund Thomson syndrome?
• Is Rothmund Thomson Syndrome genetic?
• What causes Rothmund Thomson syndrome?

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