Apert syndrome: A case report and review of the literature
نویسنده
چکیده
Apert syndrome is the rare acrocephalosyndactyly syndrome type 1, characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. It demonstrates autosomal dominant inheritance assigned to mutations in the fibroblast growth factor receptor gene. Presently described is case of a 19-year-old female patient diagnosed on physical examination with Apert syndrome based on acrocephaly, prominent forehead, ocular hypertelorism, proptosis, short and broad nose, pseudoprognathism, dental crowding and ectopia, maxillar hypoplasia, low hairline, webbed neck, pectus excavatum, and severe, bilateral syndactyly of hands and feet. The multiple phenotypic signs of Apert syndrome make multidisciplinary team, including dentist, neurosurgeon, plastic surgeon, physiatrist, ophthalmologist, perinatalogist and geneticist, essential for successful management.
منابع مشابه
Apert Syndrome: A Case Report
Apert syndrome is a genetic defect which was first described by Eugene Apert in 1906. itchr('39')s incidence is approximately one in 50000 births. This syndrome is many abnormalities in your body and Central Nervous System. rehabilitation can increase children and their parentchr('39')s quality of life.We report a case of Apert syndrome and his occupational therapy program.
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...
متن کاملEosinophilic Cellulitis: Report of a case and literature review
Eosinophilic cellulitis is a rare skin disorder may be idiopathic or be associated with other conditions. We present a 42- year- old female patient with bilateral atypical cellulitis – like lesions on her arms. The patient had a documented infection with Leptospira recently, and had a positive history for fascioliasis two years before.Histopathology examination of the l...
متن کاملAcquired Unilateral Nevoid Telangiectasia Syndrome: A Case Report and Review of Literature
Unilateral nevoid telangiectasia syndrome (UNTS) can be classified into two major categories: congenital and acquired. There have been reports showing an increase in skin estrogen and progesterone receptors in patients with this syndrome. We report a male patient with acquired unilateral nevoid telangiectasia syndrome without any associated physiological or pathological conditions.<...
متن کاملRothmund-Thomson Syndrome with Malignant Fibrous Histiocytoma: Report of a Case and Review of Literature
Rothmund–Thomson syndrome is a rare autosomal recessive genodermatosis characterized by early onset of poikiloderma and several other cutaneous and organ involvements. We are going to report a 14-year-old girl who has been diagnosed with Rothmund– Thomson syndrome since she was 3 years old and has been suffering from pain and swelling of the right elbow and forearm for about 6 months. There are...
متن کاملMcCune-Albright Syndrome: A Case Report and Literature Review
McCune-Albright syndrome (MAS) is a rare, heterogenous, clinical condition caused by a rare genetic mutation. The disorder is more common in females and is characterized by a triad of cutaneous, bone and endocrine abnormalities. We describe a girl patient with MAS having precocious puberty and multiple cafe-au-lait macules and deforming polyostotic fibrous dysplasia of bone. Clinical presentat...
متن کامل