science

McGillivray syndrome

McGillivray syndrome is a science topic covered in the lgStudy science library. This page brings together a partial reference excerpt, illustrations, worked examples, real-world applications and a short study plan, so you can understand McGillivray syndrome rather than just read about it. In short: McGillivray syndrome is a rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia. The symptoms of this syndrome are ventricular septal defect, patent ductus arteriosus, small jaw, undescended testes, and webbed fingers.

Key takeaways

McGillivray syndrome belongs to science; place it in that map before memorising details.
Learn the definition first, then one example that makes the definition concrete.
Connect McGillivray syndrome to a quantity you can measure, compute or draw — that is where exam questions come from.
Reproduce the core statement of McGillivray syndrome from memory before moving on to harder problems.

Reference excerpt

McGillivray syndrome is a rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia. The symptoms of this syndrome are ventricular septal defect, patent ductus arteriosus, small jaw, undescended testes, and webbed fingers. Beside to these symptoms there are more symptoms which is related with bone structure and misshape. McGillivray syndrome is a birth defect in which one or more of the joints between the bones of the baby's skull close prematurely, before the baby's brain is fully formed. When the baby has craniosynostosis, the brain cannot grow in its natural shape and the head is misshapen. It can affect one or more of the joints in the baby's skull. In some cases, craniosynostosis is associated with an underlying brain abnormality that prevents the brain from growing properly. Treating McGillivray usually involves surgery to separate the fused bones. If there is no underlying brain abnormality, the surgery allows the baby's brain to grow and develop in adequate space.

Symptoms and signs The baby's skull has seven bones. Normally, these bones don't fuse until around age 2, giving the baby's brain time to grow. Joints called cranial sutures, made of strong, fibrous tissue, hold these bones together. In the front of the baby's skull, the sutures intersect in the large soft spot (fontanel) on the top of the baby's head. Normally, the sutures remain flexible until the bones fuse. The signs of craniosynostosis may not be noticeable at birth, but they become apparent during the first few months of the baby's life. The symptoms differs from types of synostosis. First of all there is Sagittal synostosis (scaphocephaly). Premature fusion of the suture at the top of the head (sagittal suture) forces the head to grow long and narrow, rather than wide. Scaphocephaly is the most common type of craniosynostosis. The other one is called Coronal synostosis (anterior plagiocephaly). Premature fusion of a coronal suture — one of the structures that run from each ear to the sagittal suture on top of the head — may force the baby's forehead to flatten on the affected side. It may also raise the eye socket and cause a deviated nose and slanted skull. The Bicoronal synostosis (brachycephaly). When both of the coronal sutures fuse prematurely, the baby may have a flat, elevated forehead and brow.

Cause

Diagnosis First of all there is physical exam. Doctors examine the baby's head for abnormalities such as suture ridges and look the facial deformities. Also, they utilizes Computerized Tomography which scan of the baby's skull. Fused sutures are identifiable by their absences. X-rays also may be used to measure precise dimensions of the baby's skull, using a technique called cephalometry. Genetic testing. If the doctor suspects the baby's misshapen skull is caused by an underlying hereditary syndrome, genetic testing may help identify the syndrome. Genetic tests usually require a blood sample. Depending on what type of abnormality is suspected, the doctor may take a sample of the baby's hair, skin or other tissue, such as cells from the inside of the cheek. The sample is sent to a lab for analysis.

Rare types There are two less common types of McGillivray syndromes are: Metopic synostosis (trigonocephaly). The metopic suture runs from the baby's nose to the sagittal suture. Premature fusion gives the scalp a triangular appearance. Another one is Lambdoid synostosis (posterior plagiocephaly). This rare form of craniosynostosis involves the lambdoid suture, which runs across the skull near the back of the head. It may cause flattening of the baby's head on the affected side. A misshapen head doesn't always indicate craniosynostosis. For example, if the back of the baby's head appears flattened, it could be the result of birth trauma or the baby's spending too much time on his or her back. This condition is sometimes treated with a custom-fit helmet that helps mold the baby's head back into a normal position.

Treatments The major treatment is surgery for most babies. The type of surgery which they would undergo differs from age and strength they have. The main reason of doing the surgery is to alleviate pressure on the brain, and create a space for brain developing and growing. It would improve infant's appearance. The first one is Traditional surgery. During surgery, they make an incision in the baby's scalp and cranial bones, and reshape the portion of the skull. Sometimes plates and screws, often made of material that is absorbed over time, are used to hold the bones in place. Surgery, which is performed during general anesthesia, usually takes hours. After surgery, the baby remains in the hospital for at least three days. Some children may require a second surgery later because, the craniosynostosis reoccurs. Also, children with facial deformities often require future surgeries to reshape their faces. Another one is Endoscopic surgery. This less invasive form of surgery isn't an option for everyone. But in certain cases, the surgeon may use a lighted tube (endoscope) inserted through one or two small scalp incisions over the affected suture. The surgeon then opens the suture to enable the baby's brain to grow normally. Endoscopic surgery usually takes about an hour, causes less swelling and blood loss, and shortens the hospital stay, often to one day after surgery.

… excerpt ends here. Continue reading the full article.

Illustrations

Worked examples

Example 1 — a first encounter with McGillivray syndrome

Start with the simplest possible case. Write down what McGillivray syndrome claims or describes in one sentence, then invent the smallest concrete situation in which that sentence is true. In science, the smallest case is usually a single object, a single equation or a single measurement. Check that every symbol or term in your sentence has a meaning in that case.

Example 2 — changing one variable

Take the situation from Example 1 and change exactly one quantity: double it, halve it, or set it to zero. Predict what should happen to McGillivray syndrome before you calculate. Comparing your prediction with the result is the fastest way to find out whether you understand the idea or only the words.

Example 3 — an exam-style question

Typical questions about McGillivray syndrome ask you to (a) state it precisely, (b) apply it to given data, and (c) explain a limitation. Practise writing all three answers in under five minutes; the third part is what separates a full-mark answer from an average one.

Applications of McGillivray syndrome

In research: McGillivray syndrome appears in science research whenever the underlying quantities have to be modelled precisely. Papers usually cite it as a starting assumption and then explore where it breaks down.
In technology and industry: Engineering practice reuses McGillivray syndrome in design rules, simulations and safety margins. Knowing the idea lets you read a specification sheet and understand why the numbers look the way they do.
In the classroom: McGillivray syndrome is common in secondary-school and first-year university syllabi. It links to neighbouring topics Congenital disorders of eye, ear, face and neck, Congenital disorders of genital organs, Congenital heart defects, so understanding it makes those chapters shorter.
In everyday life: Look for McGillivray syndrome outside the textbook — in sport, cooking, traffic, electronics or the sky above you. An example you found yourself is remembered far longer than one you were given.

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How to study McGillivray syndrome in 20 minutes

Read the reference excerpt below once, without taking notes.
Close the page and write down what McGillivray syndrome means in your own words.
Compare your version with the excerpt and mark what you missed.
Work through the three examples above with pen and paper.
Explain McGillivray syndrome out loud to somebody else — or to Teacher Smith in the lgStudy chat.

Frequently asked questions

What is McGillivray syndrome in simple terms?

Why does McGillivray syndrome matter?

Because it connects several science ideas at once: it gives you a definition you can apply, a quantity you can calculate, and a way to check whether a result is plausible.

How should I study McGillivray syndrome?

Read the excerpt, restate it from memory, then work through the examples and applications listed on this page. The five-step study plan above takes about twenty minutes.

What does this page cover?

It gives you a compact reference excerpt plus original lgStudy explanations, examples, applications and study material on McGillivray syndrome.