craniosynostosis 7

Craniosynostosis: A Premature Fusion of Cranial Sutures

Craniosynostosis is a rare birth defect in which one or more of the six suture lines that form the living skull fuse prematurely and abnormally. This condition occurs when the bones of the skull grow together too early, before the brain is fully formed.

Causes and Effects

The premature fusion of cranial sutures can lead to dramatic manifestations in terms of appearance and functional consequences. As the baby's brain grows, the skull can become misshapen, leading to a characteristic deformity. The spaces between the baby's skull bones are filled with flexible material called sutures, which allow the skull to grow as the baby's brain grows.

Types of Craniosynostosis

Craniosynostosis types are based on where the sutures close. There are two main types:

• Sagittal craniosynostosis: affects the suture on the top of the head, resulting in a long, narrow head (scaphocephaly).
• Coronal craniosynostosis: affects one of the coronal sutures, which run from both ears to the top of the head.

Symptoms and Diagnosis

Craniosynostosis can be diagnosed by physical exam. A pediatric neurosurgeon or a specialist in plastic and reconstructive surgery may recommend imaging tests if needed. The diagnosis may include:

• Physical exam: feeling the baby's head for features such as suture ridges and looking for facial differences.
• Imaging tests: to confirm the diagnosis and assess the extent of the deformity.

Treatment Options

Craniosynostosis is treated by surgery that opens the fused sutures, creating space for brain growth. The surgeon will discuss the treatment options available for your child and work with you to choose the most appropriate procedure depending on the sutures involved and your child's specific needs.

References:

• [7] Craniosynostosis is the premature and abnormal fusion of 1 of the 6 suture lines that form the living skull (see the images below).
• [14] Craniosynostosis is premature fusion of 1 or more calvarial sutures (fibrous joints between bones of the skull).

Changes in Head Shape and Face

The most common symptom of craniosynostosis in infants is changes in the shape of the head and face. This is often the most noticeable or only symptom of this condition.

• The forehead may appear flattened on one side, a condition known as anterior plagiocephaly.
• One eye socket may appear higher than the other, and the nose may look like it's pulled up on that side.
• The shape of the head and face can be asymmetrical, with one side looking markedly different from the other.

These changes in head shape and face are usually noticeable at birth or within a few months of life. They can vary depending on which sutures in the skull are involved and how advanced the condition is when it's diagnosed.

References:

• [7] The most common symptom of craniosynostosis in infants is changes in the shape of the head and face.
• [12] In infants with this condition, the most common signs are changes in the shape of the head and face. One side of your child’s face may look markedly different from the other side.
• [14] The most common signs of craniosynostosis include: an unusually shaped head or face; asymmetrical appearance of the head or skull (one side of the face or top of the head looks different than the ...).

Diagnostic Tests for Craniosynostosis

Craniosynostosis can be diagnosed using various diagnostic tests, including:

• Physical examination: A thorough physical examination by a specialist is often the first step in diagnosing craniosynostosis. This may involve feeling for soft spots on the baby's head and checking for ridges that signify fused skull sutures [1].
• Plain radiography: X-rays can be used to create images of the head and brain, including skull sutures and bones [7].
• Computed tomography (CT) scans: CT scans use x-ray equipment and powerful computers to create detailed images of the head and brain, including skull sutures and bones [5].

In some cases, additional tests may be ordered to confirm the diagnosis or rule out other conditions. These may include:

• Genetic testing: If a genetic syndrome is suspected, genetic testing can help identify the underlying cause [9].
• Imaging studies: Additional imaging studies, such as CT scans or MRI, may be used to further evaluate the condition and plan treatment [8].

It's worth noting that craniosynostosis can sometimes be diagnosed during pregnancy through prenatal diagnosis. However, this is relatively rare and usually requires specialized testing in an academic hospital [12].

Medications Used in Craniosynostosis Treatment

Craniosynostosis Differential Diagnosis

Craniosynostosis is a condition where a baby's skull bones join together too early, which can change the shape of the head and sometimes cause brain problems. The differential diagnosis for craniosynostosis involves considering various conditions that may present with similar symptoms.

• Syndromic Craniosynostosis: This type of craniosynostosis is caused by a genetic condition and characterized by a collection of distinct facial and body anomalies with a common cause [7].
• Posterior Plagiocephaly: Also known as positional plagiocephaly, this condition involves the premature closure of the lambdoid suture, which can be a differential diagnosis for craniosynostosis [9].

Key Points to Consider

• Craniosynostosis is a complex condition that requires a comprehensive evaluation and diagnosis.
• The differential diagnosis for craniosynostosis includes various conditions that may present with similar symptoms.
• A thorough understanding of the underlying causes and characteristics of each condition is essential for accurate diagnosis and treatment.

References

[7] Syndromic craniosynostosis is caused by a genetic condition and characterized by a collection of distinct facial and body anomalies with a common cause. [9] In this case, the lambdoid suture has closed prematurely. It is the main differential diagnosis for positional plagiocephaly (see above). There is a risk for...