Crouzon Syndrome: Clinical case
نویسندگان
چکیده
منابع مشابه
Crouzon Syndrome: a case report
Crouzon Syndrome is a rare genetic disorder resulting from a mutation of the Fibroblast Growth Factor Receptor 2 Gene. The main presenting feature of this syndrome is craniofacial synostosis but multiple physical dysmorphic features have been reported. There is a dearth of literature detailing the presentation of this syndrome in the foot and lower limb. Therefore, this case report will describ...
متن کاملCrouzon syndrome - A rare case report
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 fibr...
متن کاملEarly orthodontic management of Crouzon Syndrome: a case report.
Crouzon Syndrome is an autosomal dominant disorder with complete penetrance and variable expressivity. Described by a French neurosurgeon in 1912, it is a rare genetic disorder. Crouzon syndrome is caused by mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. The disease is characterized by premature synostosis of coronal and sagittal sutures which begins in the first year of life...
متن کاملCase Study: Anaesthetic management of a patient with Crouzon syndrome
Crouzon syndrome is a rare hereditary disorder, characterised by marked craniofacial dysostosis from birth or early childhood. Typically, patients present in early childhood for craniofacial reconstruction surgery. Presentation in early adulthood is unusual. The most challenging aspect, for an attending anaesthesiologist, is the management of the difficult airway that is usually present in thes...
متن کاملCrouzon 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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ژورنال
عنوان ژورنال: Pediatric pharmacology
سال: 2019
ISSN: 2500-3089,1727-5776
DOI: 10.15690/pf.v16i1.2002