Brachyturricephaly

Brachyturricephaly is a term used to describe a specific type of cranial shape abnormality characterized by a short and broad head. This condition is a subtype of craniosynostosis, which is a broader category of conditions involving the premature fusion of one or more of the cranial sutures in an infant's skull. The early fusion leads to an abnormal head shape due to restricted growth in the fused sutures while growth continues in the sutures that remain open. Brachyturricephaly specifically refers to the condition where there is a disproportionate width to length of the skull.

Etiology

The exact cause of brachyturricephaly, like many forms of craniosynostosis, is not fully understood. However, it is believed to involve a combination of genetic and environmental factors. Some cases have been linked to specific genetic mutations or syndromes, such as Crouzon Syndrome and Apert Syndrome, which are characterized by craniosynostosis among other anomalies.

Diagnosis

Diagnosis of brachyturricephaly typically involves a physical examination and imaging studies. During the physical examination, a healthcare provider may note the characteristic shape of the head. Imaging studies, such as X-rays or computed tomography (CT) scans, are then used to confirm the diagnosis by showing the premature fusion of the sutures.

Treatment

Treatment for brachyturricephaly generally involves surgery to correct the shape of the skull and allow for normal brain growth. The specific type of surgery may vary depending on the sutures involved and the severity of the condition. Surgical intervention is often performed in infancy to achieve the best outcomes. In some cases, multiple surgeries may be required as the child grows.

Prognosis

The prognosis for individuals with brachyturricephaly largely depends on the severity of the condition and the presence of any associated syndromes or anomalies. With early and appropriate treatment, many children can achieve normal brain development and a good cosmetic outcome. However, ongoing monitoring and care from a multidisciplinary team of healthcare providers are often necessary.

See also

• Craniosynostosis
• Crouzon Syndrome
• Apert Syndrome
• Cranial sutures

Resources

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Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on Brachyturricephaly for any updates.

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