crouzon syndrome: a fibroblast growth factor receptor 2 gene mutation
نویسندگان
چکیده
crouzon syndrome is a rare autosomal dominant premature cranyosynostosis, caused by fibroblast growth factor receptor 2 gene mutation on chromosome 10. the predominant skull and facial malformations with potential compromise airway make the crouzon syndrome a demanding issue for anesthesiologists and surgeons, required dynamic team work. in this report we describe a child, a known case of crouzon syndrome who was a candidate for optic nerve decompression through endoscopic surgery. the anesthetic considerations and management are presented. key words : crouzon syndrome, fgfr2 gene, difficult intubation, anesthesia
منابع مشابه
A novel fibroblast growth factor receptor 2 (FGFR2) mutation associated with a mild Crouzon syndrome.
Crouzon syndrome (CS) is an autosomal dominant disorder characterised by premature fusion of cranial sutures leading to the clinical condition of craniosynostosis, which is usually associated with skull distorsion. Over the past years several mutations in fibroblast growth factor receptor (FGFR) genes 1, 2, 3 have been identified in both syndromic and non-syndromic craniosynostosis; the patholo...
متن کاملClinically mild, atypical, and aged craniofacial syndrome is diagnosed as Crouzon syndrome by identification of a point mutation in the fibroblast growth factor receptor 2 gene (FGFR2).
A 53-year-old Japanese woman presented with mild mental retardation, short stature, hypertelorism, saddle nose, vertebral fusion, and hydrocephalus, implying an underlying bone growth impairment mainly of the head and neck. A point mutation in fibroblast growth factor receptor 2 (FGFR2) was identified that had previously been seen only in sporadic cases of Crouzon syndrome. This patient did not...
متن کاملFibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis
Craniosynostosis results from the premature fusion of cranial sutures, with an incidence of 1 in 2,100-2,500 live births. The majority of cases are non-syndromic and involve single suture fusion, whereas syndromic cases often involve complex multiple suture fusion. The fibroblast growth factor receptor 2 (FGFR2) gene is perhaps the most extensively studied gene that is mutated in various cranio...
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Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features. This infant exhibited craniofacial anomalies, ocular proptosis, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, hypospadia, and sacral skin tag...
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Pfeiffer syndrome is an autosomal dominant condition classically combining craniosynostosis with digital anomalies of the hands and feet. The majority of cases are caused by heterozygous mutations in the third immunoglobulin-like domain (IgIII) of FGFR2, whilst a small number of cases can be attributed to mutations outside this region of the protein. A mild form of Pfeiffer syndrome can rarely ...
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BACKGROUND One of the main challenges in skin flap surgery is tissue ischemia and following necrosis. The present study compares the effects of fibroblast growth factors 1 and 2 on increasing cutaneous vasculature, improving ischemia, and preventing distal necrosis in ischemic skin flaps in rat model. METHODS Thirty rats were allocated into 3 groups (n=10) and 2×8 cm dorsal rando...
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عنوان ژورنال:
journal of cellular and molecular anesthesiaجلد ۲، شماره ۱، صفحات ۱۵-۱۸
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