Clinical And Genetic Analysis,literature Review Of 1 Patients With Crouzon Syndrome

Objective: To analyze the clinical characteristics of one case of Crouzon syndrome,combined with the identification of the mutation site of fibroblast growth factor receptor 2(FGFR2)gene,the clinicians' understanding of the clinical characteristics and molecular genetics of the disease was improved,and the literature was reviewed.Methods:The clinical data of a child with Crouzon syndrome diagnosed by neurology in our department were analyzed in detail.The target genes captured by DNA,in the peripheral blood of the child and her parents' were extracted and analyzed by high-throughput second-generation sequencing.Poly Phen-2Mutation Taster and other software were used to predict the pathogenicity of gene mutation.Results:The 12-year-old child suffered from intermittent headache for 3 years,aggravated for more than 20 days,urination incontinence for 3 days,and weakness of both lower limbs for 1 day.The headache occurred in the bilateral temporal region,which showed paroxysm,and the local treatment effect was not satisfactory.After that,there were no obvious causes of urinary incontinence,weakness of both lower limbs,widening of eye distance,exophthalmos,exotropia,small pharyngeal cavity,small mandible,flattened bridge of nose,grade I muscle strength of both lower limbs,and no obvious abnormalities were found in cardiopulmonary,spinal,skin and nervous system physical examination.Her father has a similar special face.The results of cranial MRI+DWI+MRV showed that there was no obvious abnormality in plain scan of craniocerebral MRI,no diffusion limited signal in craniocerebral DWI,thinner and thinner left internal jugular vein and left transverse sinus.MR thoracic spine + lumbar vertebra scan shows the 3-6 vertebral level spinal cord line-like length T2 high signal.Sleep breathing monitoring results show 1.Meet sleep apnea-hypopnea syndrome;obstructive type Mainly,severe 2.Nocturnal sleep hypoxemia is: Severe.No obvious abnormality was found in fundus,intraocular pressure and thyroid function.After treatment,the symptoms were relieved,there was no urinary incontinence,and the muscle strength of both lower limbs returned to normal.Considering that the child and his father had similar special faces,DNA was extracted from the peripheral blood of the child and her parents' for gene analysis.The results showed that there was a heterozygous mutation c.1025 G > A(p.Cys342Tyr)in the FGFR2 gene,which was a missense mutation,and her father was a heterozygous mutation,but no mutation was found in her mother.Conclusion:1.Through clinical and genetic analysis,1 patient with Crouzon syndrome was definitely diagnosed.2.Consistent with foreign reports,mutations in the FGFR2 gene may be one of the causes of the disease in patients with Crouzon syndrome.3.The FGFR2 gene c.1025G> A(p.Cys342Tyr)mutation may overexpress the FGFR2 signal,causing abnormal bone formation and premature closure of cranial suture.4.Crouzon syndrome has a low incidence,is complex,has multiple complications,involves multiple disciplines,and is difficult to diagnose.Clinicians pay attention to combining clinical manifestations,laboratory,imaging examinations and genetic analysis to distinguish them from other diseases.