Intracranial and extracranial malformations in patients with craniofacial anomalies.

BACKGROUND: Craniofacial structures have an intimate relationship with the central nervous system in the embryologic development period and the developmental abnormalities of the face and skull that are frequently associated with malformations of the central nervous system. Additional intracranial and extracranial malformations in a patient with craniofacial deformity may negatively affect the outcome of the surgery and the quality of life.

PATIENTS AND METHODS: A retrospective analysis of a total of 123 patients with craniofacial anomalies was performed. Physical examination notes, ophthalmologic findings, computed tomography, and magnetic resonance imaging reports were retrospectively analyzed, and intracranial and extracranial malformations and ophthalmologic problems in each group were categorized.

RESULTS: Of the patients with nonsyndromic craniosynostosis, 29% had intracranial and extracranial malformations. Of them, 17% had ophthalmologic problems. Of the patients with syndromic craniosynostosis, 34% had intracranial and 31% had extracranial malformations. In the patients with craniofacial cleft, 60% had intracranial and 30% had extracranial malformations. The most common intracranial malformations are hydrocephaly, Chiari type 1 malformation, and corpus callosum disorders.

CONCLUSIONS: A multidisciplinary approach is essential in the evaluation and follow-up of individuals with craniofacial abnormalities. Conventional radiography and three-dimensional computed tomography of the bony skeleton and axial scanning of the soft tissues is our first-step routine. Brain magnetic resonance imaging should be performed in patients with multiple-suture synostosis, syndromic synostosis, and craniofacial clefts to rule out central nervous system and soft tissue malformations. During the postoperative first year, conventional x-rays are sufficient to evaluate the craniofacial area. Central nervous system disorders may cause major headaches, muscle weakness, hearing problems, extreme fatigue, poor motor coordination, and cognitive and social disabilities even when their intelligence quotient is normal. Therefore, every effort should be performed to search and treat additional malformations. Prevention of additional morbidities improves surgical and social outcomes.