科研之友
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摘要
Background: The authors catalogued phenotypic variability among children with Apert syndrome, reviewed surgical outcomes (particularly with respect to their treatment goals of avoiding preventable developmental delays and reducing operative interventions), and examined correlations that might stimulate improved treatment paradigms. Methods: A case series review of all Apert syndrome patients, treated by a single surgeon, including phenotypic variations, mutational analyses, developmental assessments, and surgical treatments, was performed. Results: Over a 20-year period, 135 Apert syndrome patients were treated (32 percent from birth). A fairly even distribution of mutations was noted (S252W, n = 20; P253R, n = 18). Of 268 hands, 60 percent were type I, 21 percent were type II, and 19 percent were type III. Fifty percent had palatal anomalies. Three separate skull configuration types were identified, and 29 percent had acquired Chiari malformations, 24 percent had anomalies of the septum pellucidum, and 12 percent had anomalies of the corpus callosum. Cranial and midfacial procedures were performed significantly earlier at outside centers (6.2 months versus 12.6 months, and 5.3 years versus 7.5 years). No significant correlations were noted between development and gene mutation, hand or skull phenotypes, intracranial anomalies, and timing of initial skull surgery. A significant correlation was noted between adverse development and ventriculoperitoneal shunts, tracheostomies, and more operative interventions. Higher development strongly correlated with treatment at our center from birth. Conclusion: Treatment goals focused on the prevention of avoidable developmental delays (from raised intracranial pressure and sleep apnea) and reducing operative interventions may potentially improve developmental outcomes. (Plast. Reconstr. Surg. 131: 132, 2013.)
- 出版日期2013-1
