Pierre Robin序列征15例临床及随访分析
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摘要
目的探讨Pierre Robin序列征患儿的临床特点及随访情况,为合理诊治提供依据。方法回顾性分析2012年1月~2017年3月本院新生儿病房收治的Pierre Robin序列征患儿的临床资料,总结患儿临床特点和诊治要点。结果 15例Pierre Robin序列征患儿均具有小下颌畸形、舌后坠及喂养困难、呼吸困难等典型临床特征,12例有腭裂。15例患儿按临床分级给予综合治疗,其中5例放弃治疗后死亡。10例病情好转出院的患儿中,2例失访,8例随访患儿中6例生长发育指标与正常同龄儿童相仿,2例生长发育较正常同龄儿童落后。结论临床医生深刻认识Pierre Robin序列征的临床特征有助于早期诊断本病,按本病分级制定个体化治疗方案能有效改善患儿预后。
Objective To investigate the clinical characteristics and follow-up of children with Pierre Robin sequencesigns, and to provide evidence for rational diagnosis and treatment. Methods The clinical data of children with Pierre Robin sequencesignsadmitted in our neonatal ward from January 2012 to March 2017 were analyzed retrospectively,the clinical features and diagnosis and treatment of children were summarized. Results 15 cases of Pierre Robin sequencesigns were with micrognathia,tongue fall and feeding difficulties,breathing difficulties and other typical clinical features,there were 12 cases with cleft palate.15 children were given comprehensive treatment according to clinical classification,5 cases of them died after giving up treatment.Of the 10 children who were discharged from the hospital,2 cases were lost and 8 cases were followed up.6 cases of the children were similar to those of normal children of the same age,and 2 cases were less developed than those of normal children of the same age. Conclusion Clinicians have a profound understanding of the clinical features of Pierre Robin sequencesigns,which is helpful for the early diagnosis of this disease.According to the classification of the disease,it is possible to develop an individualized treatment plan to improve the prognosis of the children.
Objective To investigate the clinical characteristics and follow-up of children with Pierre Robin sequencesigns, and to provide evidence for rational diagnosis and treatment. Methods The clinical data of children with Pierre Robin sequencesignsadmitted in our neonatal ward from January 2012 to March 2017 were analyzed retrospectively,the clinical features and diagnosis and treatment of children were summarized. Results 15 cases of Pierre Robin sequencesigns were with micrognathia,tongue fall and feeding difficulties,breathing difficulties and other typical clinical features,there were 12 cases with cleft palate.15 children were given comprehensive treatment according to clinical classification,5 cases of them died after giving up treatment.Of the 10 children who were discharged from the hospital,2 cases were lost and 8 cases were followed up.6 cases of the children were similar to those of normal children of the same age,and 2 cases were less developed than those of normal children of the same age. Conclusion Clinicians have a profound understanding of the clinical features of Pierre Robin sequencesigns,which is helpful for the early diagnosis of this disease.According to the classification of the disease,it is possible to develop an individualized treatment plan to improve the prognosis of the children.
引文
[1]Robin P.Backword lowering of the root of the tongue causing respiratory disturbances[J].Bull Acad Med,1923,89(2):37-41.
[2]Maas C,Poets CF.Initial treatment and eraly weight gain of children with Robin sequence in Germany:a Prospective epidemiological study[J].Arch Dis Child Fetal Neonatal Ed,2014,99(6):491-494.
[3]Gangopadhyay N,Mendonca DA,Woos AS.Pierre Robin sequence[J].Plast Surg,2012,26(2):76-82.
[4]GüzüA,Genc B,Palabiyik M,et al.Airway management in neonates with Pierre Robin sequence[J].Turk J Pediatr,2010,52(2):167-172.
[5]Costa MA,Tu MM,Murage KP,et al.Robin sequence:mortality,causes of death,and clinical outcomes[J].Plast Reconstr Surq,2014,134(4):738-745.
[6]Benko S,Fantes JA,Amiel J,et al.Highly conserved noncoding elements on either side of SOX9 associated with Pierre Robin sequence[J].Nat Genet,2009,41(3):359-364.
[7]Gordon CT,Attanasio C,Bhatia S,et al.Identification of novel craniofacial regulatory domains Iocated far upstream of SOX9 and disrupted in Pierre Robin sequence[J].Hum Mutat,2014,35(8):1011-1020.
[8]常淑婷,彭小明,黄维清,等.Pierre Robin综合征11例临床及随访分析[J].中国新生儿科杂志,2015,30(5):335-338.
[9]吕娟娟,陈慧,欧阳学军,等.Pierre Robin综合征3例[J].实用儿科临床杂志,2012,27(16):1242.
[10]Ricks JE,Ryder VM,Bridgewater LC,et al.Altered mandibular development precedes the time of palate closure in mice homozygous for disproportionate micromelia:an oral clefting model supporting the PierreRobin sequence[J].Teratology,2002,65(3):116-120.
[11]Anderson IC,Sedaghat AR,Mc Ginley BM,et al.Prevalence and severity of obstructive sleep apnea and snoring in infants with Pierre Robin sequence[J].Cleft Palate Craniofac,2011,48(5):614-618.
[12]Smith MC,Senders CW.Prognosis of airway obstruction and feeding difficulty in the Robin sequence[J].Int J Pediatr Otorhinolaryngol,2006,70(2):319-324.
[13]Cole A,Lynch P,Slator R.A new grading of Pierre Robin sequence[J].Cleft Palate Craniofac,2008(45):603-606.
[14]Van den Elzen AP,Semmekrot BA,Bongers EM,et al.Diagnosis and treatment of the Pierre Robin sequence:results of a retrospective clinical study and review of the literature[J].Eur J Pediatr,2001,160(1):47-53.
[15]Drescher FD,Jptzo M,Goelz R,et al.Cognitive and psychosocial development of children with Pierre Robin sequence[J].Acta Paediatr,2008,97(5):653-656.
[16]Thouvenin B,Djadi-Prat J,Chalouhi C,et al.Developmental outcome in Pierre Robin sequence:a longitudinal and prospective study of a consecutive series of severe phenotypes[J].Am J Med Genet A,2013,161A(2):312-319.
[2]Maas C,Poets CF.Initial treatment and eraly weight gain of children with Robin sequence in Germany:a Prospective epidemiological study[J].Arch Dis Child Fetal Neonatal Ed,2014,99(6):491-494.
[3]Gangopadhyay N,Mendonca DA,Woos AS.Pierre Robin sequence[J].Plast Surg,2012,26(2):76-82.
[4]GüzüA,Genc B,Palabiyik M,et al.Airway management in neonates with Pierre Robin sequence[J].Turk J Pediatr,2010,52(2):167-172.
[5]Costa MA,Tu MM,Murage KP,et al.Robin sequence:mortality,causes of death,and clinical outcomes[J].Plast Reconstr Surq,2014,134(4):738-745.
[6]Benko S,Fantes JA,Amiel J,et al.Highly conserved noncoding elements on either side of SOX9 associated with Pierre Robin sequence[J].Nat Genet,2009,41(3):359-364.
[7]Gordon CT,Attanasio C,Bhatia S,et al.Identification of novel craniofacial regulatory domains Iocated far upstream of SOX9 and disrupted in Pierre Robin sequence[J].Hum Mutat,2014,35(8):1011-1020.
[8]常淑婷,彭小明,黄维清,等.Pierre Robin综合征11例临床及随访分析[J].中国新生儿科杂志,2015,30(5):335-338.
[9]吕娟娟,陈慧,欧阳学军,等.Pierre Robin综合征3例[J].实用儿科临床杂志,2012,27(16):1242.
[10]Ricks JE,Ryder VM,Bridgewater LC,et al.Altered mandibular development precedes the time of palate closure in mice homozygous for disproportionate micromelia:an oral clefting model supporting the PierreRobin sequence[J].Teratology,2002,65(3):116-120.
[11]Anderson IC,Sedaghat AR,Mc Ginley BM,et al.Prevalence and severity of obstructive sleep apnea and snoring in infants with Pierre Robin sequence[J].Cleft Palate Craniofac,2011,48(5):614-618.
[12]Smith MC,Senders CW.Prognosis of airway obstruction and feeding difficulty in the Robin sequence[J].Int J Pediatr Otorhinolaryngol,2006,70(2):319-324.
[13]Cole A,Lynch P,Slator R.A new grading of Pierre Robin sequence[J].Cleft Palate Craniofac,2008(45):603-606.
[14]Van den Elzen AP,Semmekrot BA,Bongers EM,et al.Diagnosis and treatment of the Pierre Robin sequence:results of a retrospective clinical study and review of the literature[J].Eur J Pediatr,2001,160(1):47-53.
[15]Drescher FD,Jptzo M,Goelz R,et al.Cognitive and psychosocial development of children with Pierre Robin sequence[J].Acta Paediatr,2008,97(5):653-656.
[16]Thouvenin B,Djadi-Prat J,Chalouhi C,et al.Developmental outcome in Pierre Robin sequence:a longitudinal and prospective study of a consecutive series of severe phenotypes[J].Am J Med Genet A,2013,161A(2):312-319.