Apert Syndrome
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What is Apert syndrome?Apert syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. In addition, a varied number of fingers and toes are fused together (syndactyly). Many of the characteristic facial features of Apert syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to a sunken appearance in the middle of the face, bulging and wide-set eyes, a beaked nose, and an underdeveloped upper jaw leading to crowded teeth and other dental problems. Shallow eye sockets can cause vision problems. Hearing loss may be present. Recurrent ear infections are common and may be associated with an opening in the roof of the mouth (cleft palate). Acne can be severe. Additionally, individuals with Apert syndrome have webbed or fused fingers and toes. The severity of the fusion varies; at a minimum, three digits on each hand and foot are fused together. In the most severe cases, all of the fingers and toes are fused. Intellectual development also varies, ranging from normal to mild or moderate mental retardation. How common is Apert syndrome?Apert syndrome affects about 1 in 100,000 individuals. What genes are related to Apert syndrome?Mutations in the FGFR2 gene cause Apert syndrome. The FGFR2 gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells in a developing embryo and fetus. A mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and feet. How do people inherit Apert syndrome?Apert syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Almost all cases of Apert syndrome result from a sporadic new mutation, meaning neither parent has the disorder. Individuals with Apert syndrome, however, can pass along the disorder to the next generation.
Source: National Institutes of Health
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Recent findings from St. Mary's Hospital highlight research in craniosynostosis therapy
2007 MAR 5 -- Scientists discuss in "Sinus pericranii associated with craniosynostosis" new findings in craniosynostosis. "Sinus pericranii is a vascular tumor of the head having communication with the dural venous system. The tumor enlarges with increased intracranial pressure when the patient is in the lateral recumbent position," scientists writing in the Journal of Craniofacial Surgery report. "Since Stromeyer used the term "sinus pericranii" in his report in 1850, approximately 170 cases have been reported. However, relatively few cases of sinus pericranii have been reported in association with craniosynostosis or by plastic surgeons. In this study, we report seven cases of sinus pericranii associated with craniosynostosis. There were two patients with Apert syndrome, two with Crouzon syndrome, two with oxycephaly, and one with trigonocephaly. The sites of occurrence were the parietal region in six patients and the frontal region in one patient. In either type of case, the tumor was clinically a soft subcutaneous mass of the head. The clinical characteristics of the tumor were its disappearance when the patient was in a sitting position and its appearance when the patient was in a recumbent position or crying. The patients were preoperatively diagnosed with sinus pericranii from imaging test findings, such as from magnetic resonance imaging and aforementioned clinical findings. In all cases, treatment for sinus pericranii was performed during the surgery for craniosynostosis. For patients with lesions in either site, we did not perform craniotomy, and we used a minimally invasive method of tumor excision and resection of the sites of communication using electrocoagulation. Perioperatively, heavy hemorrhage was not observed, and, postoperatively, no recurrence has been observed in any patient," wrote N. Mitsukawa and colleagues, St. Mary's Hospital. The researchers concluded: "In this study, we examine the etiology, diagnosis, and treatment of sinus pericranii, in particular for patients with craniosynostosis." Mitsukawa and colleagues published their study in the Journal of Craniofacial Surgery (Sinus pericranii associated with craniosynostosis. Journal of Craniofacial Surgery, 2007;18(1):78-84). Additional information can be obtained by contacting N. Mitsukawa, St. Mary's Hospital, Dept. of Plastic and Reconstructive Surgery, Kurume, Japan. The publisher of the Journal of Craniofacial Surgery can be contacted at: Lippincott Williams & Wilkins, 530 Walnut St., Philadelphia, PA 19106-3621, USA. Keywords: Japan, Kurume, Craniosynostosis Therapy, Craniofacial, Craniosynostosis, Neurology, Neurosurgery, Surgery, Synostosis. This article was prepared by Pain & Central Nervous System Week editors from staff and other reports. Copyright 2007, Pain & Central Nervous System Week via NewsRx.com.
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