Crouzon syndrome - A rare case report
نویسندگان
چکیده
Crouzon syndrome is the most common syndrome among the craniosynostosis group. Crouzon syndrome accounts for about 4.8% of all of them. It commonly has autosomal dominant inheritance with complete penetrance and variable expressivity from subtle to severe forms and characterized by craniosynostosis, exophthalmos, and hypoplastic maxilla with relative mandibular prognathism. Mutation of the fibroblast growth factor receptor-2 gene is responsible for the occurrence of this rare genetic disorder. Our paper reports the diagnosis of this rare syndrome in a young female patient based on clinical and radiographical features. Prompt and timely management of the syndrome has enabled this patient to lead a normal life despite the syndrome.
منابع مشابه
Crouzon syndrome in association with acanthosis nigricans
Crouzon syndrome is a rare inherited autosomal dominant syndrome characterized by craniosynostosis, midface hypoplasia. Acanthosis nigricans may be associated with Crouzon syndrome, but it differs from the classic crouzon syndrome. This is a report of a 30-year-old-woman who presented acanthosis nigricans coexist with crouzon syndrome.
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The most important craniofacial dysostosis & syndromes are Crouzon, Apret, Pfeiffer.Carpenter Saether- Chotzen. The common characteristic is premature closure of cranial sutures, which result in Maxillofacial deformities. Perfect recognition and carefully evaluation are the most important points in their reconstruction surgery.Because the prevalence & surgical treatment of Crouzon syndrome is l...
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Introduction: The Crouzon syndrome is a rare clinical condition that affects the craniofacial skeleton development. It accounts for about 4.8% of all the cases of craniosynostosis, and it is the most common syndrome presenting with craniosynostoses. The Crouzon syndrome’s early diagnosis is critical to avoid cranial hypertension as well as visual disturbances and blindness. Children who have Cr...
متن کاملPremature Craniosynostosis in a Rare Genetic Disease- A Case Report
BACKGROUND Crouzon syndrome is a rare genetic disorder inherited in autosomal dominant pattern with complete penetration and variable expressivity. Its most notable characteristic feature is premature synostosis of cranial sutures The case presented is of a 4 yr old boy with box like head with microcephaly, protuberant eyes, hydrocephalus, low visual acquity diagnosed as a case of crouzon syndr...
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عنوان ژورنال:
دوره 11 شماره
صفحات -
تاریخ انتشار 2017