Combined Metopic and Unilateral Coronal Synostoses
| Autor: | Albert K. Oh, Gary F. Rogers, Kamlesh B. Patel, Mark R. Proctor, John B. Mulliken, Tina M Sauerhammer |
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| Rok vydání: | 2014 |
| Předmět: |
Male
medicine.medical_specialty Cephalometry Radiography Craniosynostosis Parietal Bone Craniosynostoses Deformity Humans Medicine Forehead Ear External Craniofacial Retrospective Studies business.industry Twist-Related Protein 1 Infant Newborn Nuclear Proteins Retrospective cohort study Cranial Sutures General Medicine Acrocephalosyndactylia medicine.disease Vertex (anatomy) Surgery Phenotype medicine.anatomical_structure Otorhinolaryngology Frontal Bone Mutation Female Coronal suture medicine.symptom Tomography X-Ray Computed business Follow-Up Studies |
| Zdroj: | Journal of Craniofacial Surgery. 25:437-440 |
| ISSN: | 1049-2275 |
| DOI: | 10.1097/01.scs.0000436674.59196.cd |
| Popis: | Background Most types of craniosynostosis cause predictable changes in cranial shape. However, the phenotype of combined metopic and unilateral coronal synostoses is anomalous. The purpose of this observational study was to better clarify the clinical and radiographic features of this rare entity. Methods A retrospective review of a craniofacial database was performed. Patients with combined metopic and unilateral coronal synostoses were included in this study. Data collected included demographic information, physical and radiographic findings, genetic evaluation, treatment, and operative outcomes. Results Of 687 patients treated between 1989 and 2010, only 3 patients had combined metopic and unilateral coronal synostoses. All patients were diagnosed through computed tomography on the first day of life. Phenotypic features included the following: (1) narrowed forehead with a prominent midline ridge, (2) severe bilateral brow retrusion with an acute indentation on the side of the patient coronal suture, (3) facial and nasal angulation similar to isolated unilateral coronal synostosis, and (4) anterior displacement of the ear on the fused side. In addition, the cranial vertex was deviated toward the side of the open coronal suture. Two patients had a head circumference below the 25th percentile; 2 of the 3 had a TWIST gene mutation consistent with Saethre-Chotzen syndrome. One patient was managed through fronto-orbital advancement and required a revision. The other 2 patients had early endoscopic release, followed by postoperative helmet therapy; one improved but still required open cranial remodeling. The other has near-normal phenotype, and no further surgery is planned. Conclusions Combined metopic and unilateral coronal synostoses present a rare and unusual phenotype. Although early intervention improves the deformity, revisional procedures are usually required. |
| Databáze: | OpenAIRE |
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