Holoprosencephaly: A Case Study for Communicative and Swallowing Management

M. Ciyiltepe, Z. U. Coskun
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Abstract

Holoprosencephaly (HP) is a developmental central nervous system defect characterized by advanced facial anomalies resulting from the complete separation of two lobes of the cerebral hemispheres [1]. Prevalence is 1.31 in 10,000 births [2,3]. There is a parallel relationship between the combination of different etiological factors in different contributions and the changing clinical picture of the disease. Autosomal dominant and autosomal recessive inherited forms are reported in the literature [4,5]. Considering the studies on holoprosencephaly, developmental, neurological and medical problems were found in children with holoprosencephaly Cohen, 1982; Ersin & Ertugrul, 2005 [6,7]. Table 1 lists the physical findings that can be seen in individuals with HP. Postnatal care of HP is multidisciplinary, symptomatic and long-lasting cognitive and physical supportive therapy. Prognosis depends on the size of the associated medical and neurological disorders (Table 2). Table 1: Physical characteristics that can be seen in
无前脑畸形:交流与吞咽治疗的个案研究
全前脑畸形(holoproencephaly, HP)是一种发育性中枢神经系统缺陷,其特征是大脑半球两个叶完全分离导致晚期面部异常[1]。患病率为万分之1.31[2,3]。不同病因因素的组合在不同的贡献和疾病的临床图像变化之间存在平行关系。常染色体显性和常染色体隐性遗传形式在文献中有报道[4,5]。考虑到对无前脑畸形的研究,在无前脑畸形儿童中发现了发育、神经和医学问题(Cohen, 1982);Ersin & Ertugrul, 2005[6,7]。表1列出了HP患者的身体检查结果。HP的产后护理是多学科、对症和持久的认知和物理支持治疗。预后取决于相关医学和神经系统疾病的大小(表2)
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