Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.
نویسندگان
چکیده
Fabiola Quintero-Rivera, Caroline D. Robson, Rosemary E. Reiss, Deborah Levine, Carol B. Benson, John B. Mulliken, and Virginia E. Kimonis* Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts Department of Radiology, Children’s Hospital, Boston, Massachusetts Maternal Fetal Medicine, Brigham and Women’s Hospital, Boston, Massachusetts Department of Radiology, Beth Israel Deaconess Medical Center, Boston, Massachusetts Department of Radiology, Brigham and Women’s Hospital, Boston, Massachusetts Division of Plastic Surgery, Children’s Hospital, Boston, Massachusetts Division of Genetics and Metabolism, Children’s Hospital, Boston, Massachusetts Harvard Medical School, Boston, Massachusetts
منابع مشابه
Skull base and calvarial deformities: association with intracranial changes in craniofacial syndromes.
PURPOSE To analyze the skull and brain malformations in patients with craniofacial syndromes. METHODS A retrospective analysis of imaging studies of 21 children with craniofacial anomalies (8 with Apert syndrome, 6 with Pfeiffer syndrome, 4 with Crouzon syndrome, 1 with Robert syndrome, 1 with Coffin-Lowry-syndrome, and 1 with Saethre-Chotzen syndrome) was carried out using CT (21 patients), ...
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Most cases of Apert syndrome are due to S252W or P253R mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. Differences in the effects of S252W and P253R mutations on the clinical features of Apert syndrome have been studied, but little is known about the type of FGFR2 mutation in Apert syndrome with humeroradial synostosis. To study a correlation between the FGFR2 mutations and t...
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INTRODUCTION The Apert syndrome is a rare disorder of autosomal dominant inheritance caused by mutations in the FGFR2 gene at locus 10q26; patients with this syndrome present severe syndactyly, exophthalmia, ocular hypertelorism and hypoplastic midface with Class III malocclusion, besides systemic alterations. Most investigations available on the Apert syndrome address the genetic aspect or sur...
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Apert syndrome is an autosomal dominant disease characterized by craniosynostosis, midface hypoplasia and syndactyly. In general, patients present in early childhood for craniofacial reconstruction surgery. Anesthetic implications include difficult airway, airway hyper-reactivity; however, possibility of raised intracranial pressure especially when operating for craniosynostosis and associated ...
متن کاملApert Syndrome with Obstructive Sleep Apnea: A Case Report
Apert syndrome is a rare kind of craniosynostosis which is identified with fusion of cranial sutures during prematurity period and causes physical and intellectual disorders in younger ages. These patients may show symptoms of obstructive sleep apnea due to abnormal craniofacial shape. This article introduces a patient with Apert syndrome, with apnea symptoms, cyanosis, snoring, restlessness, n...
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عنوان ژورنال:
- American journal of medical genetics. Part A
دوره 140 12 شماره
صفحات -
تاریخ انتشار 2006