Craniosynostosis
    
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Craniosynostosis

Definition

Craniosynostosis is a congenital (present at birth) defect that causes one or more sutures on a baby's head to close earlier than normal. Sutures are connections that separate each individual skull bones. The early closing of a suture leads to an abnormally shaped head.

Alternative Names

Premature closure of sutures

Causes

The cause of craniosynostosis is unknown. Which suture is involved determines the abnormal shape of the head.

A person's genes may play a role in craniosynostosis. The hereditary form often occurs with other defects that can cause seizures, diminished intellectual capacity, and blindness. Genetic disorders commonly associated with craniosynostosis include Crouzon, Apert, Carpenter, Chotzen, and Pfeiffer syndromes.

However, most cases of craniosynostosis occur in a family with no history of the condition and children with craniosynostosis are otherwise healthy and have normal intelligence.

There are different types of craniosynostosis. Sagittal synostosis (scaphocephaly) is the most common type. It affects the main (sagittal) suture on the very top of the head. The early closing forces the head to grow long and narrow, instead of wide. Babies with this type of craniosynostosis tend to have a broad forehead. It is more common in boys than girls.

Frontal plagiocephaly is the next most common form. It is the closure of one side of the suture that runs from ear to ear on the top of the head. It is more common in girls.

Metopic synostosis is a rare form of craniosynostosis that affects the suture close to the forehead. The child's head shape may be described as trigonocephaly, and the deformity may range from mild to severe.

Symptoms

  • Absence of the normal feeling of a "soft spot" (fontanelle) on the newborn's skull
  • Disappearance of the fontanelle early
  • A raised hard ridge along the affected sutures
  • Unusual head shape
  • Slow or no increase in the head size over time as the baby grows

Exams and Tests

The doctor will feel the infants head and perform a physical exam. A neurological exam would also help diagnose the condition. The following tests may be performed:

  • Measuring the width of the infant's head
  • X-rays of the skull
  • CT scan of the head

Treatment

The main treatment for craniosynostosis is surgery. Surgery is done while the baby is still an infant. The goals of surgery are:

  • Relieve any pressure on the brain
  • Make sure there is enough room in the skull to allow the brain to properly grow
  • Improve the appearance of the child's head

Outlook (Prognosis)

How well a person does depends on how many sutures are involved and whether other defects are present. Patients who have surgery usually do well, especially those whose condition is not association with a genetic syndrome.

Possible Complications

Craniosynostosis results in head deformity that can be severe and permanent if it is not corrected. Raised intracranial pressure, seizures, and developmental delay can occur.

When to Contact a Medical Professional

Call your health care provider if you think your child's head has an unusual shape. A referral to a pediatric neurologist or neurosurgeon should follow.

Prevention

Genetic counseling for people with hereditary craniosynostosis may be desired. Also, be sure to bring your child to well-child visits, so your pediatrician can routinely chart the growth of your infant's head over time. This will help identify the problem early if it occurs.

Goetz CG. Textbook of Clinical Neurology. 2nd ed. St. Louis, Mo: WB Saunders; 2003: 576-577.

Behrman RE, Kliegman RM, Jenson HB. Nelson Textbook of Pediatrics. 17th ed. St. Louis, Mo: WB Saunders; 2004:1992-1993.

Ridgway EB. Skull deformities. Pediatr Clin North Am. 2004; 51(2): 359-87.

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