必应词典为您提供pfeiffersyndrome的释义,网络释义: 氏症;菲佛氏症;
Pfeiffer氏综合症是英文疾病名称Pfeiffer syndrome的中文翻译,又叫5型尖头并指综合征,诺阿克综合征,简称ACS V或ACS 5。它是一种因为基因突变缺陷所引起的疾病,特征为桡侧指宽而短,拇指偏向桡侧的尖头并指(趾)畸形,而大多数为散发性或偶发性个案。症状特征描述颅缝早闭:颅缝过早闭合,以致脑无法正常生长而颅形异常...
Pfeiffer综合征是英文Pfeiffer syndrome的中文翻译。这一疾病又叫做;帕皮永-勒菲弗二氏综合征,斐弗综合征。该病是一种基因病、遗传病。佳学基因通过基因解码找到了导致这一疾病发生的基因。可以通过基因检测阻止Pfeiffer综合征在后代或者二胎中的出现。根据《人的基因序列变化与人体疾病表征》,该病属于皮肤-毛发-指甲...
科克因综合症(Cockayne syndrome) (1) 精氨酰琥珀酸尿症 (1) 糖原累积病Ⅰ型 (glycogen storage disease typeⅠ (1) 糖原累积病Ⅲ型 (1) 糖原累积病Ⅳ型(GSD type Ⅳ,MIM232500) (1) 线粒体病 (1) 线粒体脑肌病 (1) 肌萎缩侧索硬化(amyotrophic lateral sclerosis,ALS) (1) 肌酸缺乏综...
There are three types of Pfeiffer syndrome, which isinheritedas an autosomal dominant genetic disorder, meaning that only a single copy of an abnormal gene is necessary to cause the condition. The abnormal gene can be inherited from either parent or be a result of a new mutation (change in ...
Syndrome a specific combination of disease symptoms determined by a single pathogenesis. A syndrome is not equivalent to a disease as a nosologic form, since the causes of a syndrome may be different. For example, meningeal syndrome, or irritation of the meninges, may be a result of the disru...
Pfeiffer syndrome (PS) is a rare genetical disorder, originally described by Pfeiffer in 1964, and is characterized by craniosynostosis, regressed midface, syndactyly of hands and feet, and broad thumbs and big toes, with a wide range of variable severity. We report a case with a review of ...
5. Chiari type 1 malformation in an infant with type 2 Pfeiffer syndrome: further evidence of acquired pathogenesis.[J].Ranger A;Al Hayek A;Matic D,The Journal of craniofacial surgery.2010,第2期 6. Cleft palate in Pfeiffer syndrome.[J].Rosen H;Stoler JM;Desai U,The Journal of craniofaci...
Pfeiffer syndrome affects about 1 in 100,000 births.Zeitschrift Für Kinderheilkunde
Among the craniosynostosis syndromes, Pfeiffer syndrome is notable because of high mortality and the need for multiple surgical interventions. However, it is variable in severity. We propose a new classification of Pfeiffer Syndrome to define pathology and function. A retrospective review was conducted ...