A case report of Apert syndrome with review of literatures
نویسندگان
چکیده
Apert syndrome is a rare which presents with craniosynostosis, severe syndactyly, and dysmorphic facial features. It mainly caused by new mutation in fibroblast growth factor receptor-2 gene. Up-regulation of this gene results bone fusion nuclear deficiency the transcription FoxO1 key pathogenesis acne. We present herein 19-year-old man nodulocystic acne associated acrocephaly, prominent forehead, ocular hypertelorism, short broad nose, high arched palate, maxillary hypoplasia, dental crowding ectopia, bilateral syndactyly hands feet. was diagnosed for him based on mentioned clinical findings. Isotretinoin 20 mg/day prescribed significant improvement two months later. Severe early puberty synostosis hallmark we should mindful these syndromic cases dermatology clinic.
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: review and report a case.
Apert’s syndrome is an autosomal dominant inherited disease characterized mainly by achrocephalia due to synostosis of the coronary suture and by usually symmetrical syndactyly involving the four extremities. In most cases the disorder results from a mutation in the father; its prevalence at birth is 1:65,0003 and the incidence in Asians is high.4 Mental retardation is common. The literature sh...
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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 کاملApert Syndrome: A Case Report
Apert syndrome (acrocephalosyndactyly) is a rare congenital disorder characterized by craniosynostosis, midfacial malformation and symmetrical syndactyly. We present a 10-month-old infant having all the features of classical Apert syndrome. How to cite this article: Khan S, Chatra L, Shenai P, Veena KM. Apert Syndrome: A Case Report. Int J Clin Pediatr Dent 2012; 5(3):203-206.
متن کاملApert syndrome: A case report and review of the literature
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 syndro...
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ژورنال
عنوان ژورنال: Our Dermatology Online
سال: 2022
ISSN: ['2081-9390']
DOI: https://doi.org/10.7241/ourd.2022e.38