WOLF-HIRSCHHORN (4P-) SYNDROME
WOLF-HIRSCHHORN (4P-) SYNDROME
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DOI：
10.1111/j.1399-0004.1976.tb00021.x
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发表时间：
1976-01-01
影响因子：
3.5
通讯作者：
HOSEN, R
中科院分区：
文献类型：
--
作者：
JOHNSON, VP;MULDER, RD;HOSEN, R
在对43例病例的回顾中，分析了沃尔夫-赫希霍恩综合征的表型谱，并列出了临床异常的频率。典型的特征是胎儿宫内发育迟缓，严重的智力发育迟缓，典型的面容和各种大小先天性异常，提示中线融合缺陷。通过核型分析-4号染色体短臂缺失确定诊断。迄今为止报告的所有病例都是新发病例，没有兄弟姐妹参与，父母正常。预后差，34%的病例在出生后的前2年内死亡，通常是由于心脏失代偿或感染。精神发育迟滞是严重的，所以英雄般的医疗努力可能需要重新考虑。
In a review of 43 cases, the phenotypic spectrum of the Wolf-Hirschhorn syndrome is analyzed and the frequency of clinical anomalies is tabulated. The characteristic features are intrauterine growth retardation, severe psychomotor retardation, typical facies and various major and minor congenital anomalies suggestive of a midline fusion defect. Diagnosis is established by karyotyping-deletion of the short arm of chromosome 4. All cases so far reported are de novo occurrences with no sibling involvement and normal parents. Prognosis is poor, with death in the first 2 yr of life in 34% of cases, usually due to cardiac decompensation or infection. Psychomotor retardation is profound, so that heroic medical efforts probably need to be reconsidered.