DELANGE-SYNDROME - A CLINICAL REVIEW OF 310 INDIVIDUALS
DELANGE-SYNDROME - A CLINICAL REVIEW OF 310 INDIVIDUALS
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DOI：
10.1002/ajmg.1320470703
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发表时间：
1993-11-15
期刊：
影响因子：
--
通讯作者：
KOCH, S
中科院分区：
文献类型：
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作者：
JACKSON, L;KLINE, AD;KOCH, S
310名临床诊断为de Lange综合征的患者与父母支持小组一起接受检查。134名男性和176名女性组成了研究组，年龄从出生到37岁不等。检查结果记录了de Lange在她最初的综合征报告中描述的那些特征，以确定每个特征的频率和意义。此外，128个家庭完成了问卷调查，并收集了医疗，生长和发育记录。综合征的面部特征，包括长睫毛和融合的眉毛（synophrys），似乎最能支持临床诊断，尽管还需要其他特征。只有27%的人有上肢缺陷，通常与综合征有关。生长发育迟缓，几乎所有的个人，往往是产前发病。医疗问题经常发生，最常涉及眼睛和耳朵，以及心脏和胃肠道系统。在14例死亡中，几乎一半是继发于心脏或胃肠道并发症。在377个同胞的患者复发风险计算为小于1%。虽然语言能力的发展明显滞后，但大多数人都发展出了良好的自助皮肤。该研究表明，患有轻度综合征的患者比例高于通常所认为的比例。这突出了早期识别和适当的医疗和发展支持的重要性。 (C)1993 Wiley-Liss，Inc.
Three hundred ten individuals with a clinical diagnosis of de Lange syndrome were seen and examined in conjunction with the parent support group. One hundred thirty-four males and 176 females whose ages ranged from birth to 37 years made up the study group. Examination findings were recorded for those features described by de Lange in her original report of the syndrome to determine the frequency and significance of each. In addition, questionnaires were completed by 128 of these families and medical, growth and developmental records were collected. The clinical diagnosis seems best supported by the facial features of the syndrome including the long eyelashes and confluent eyebrows (synophrys), although additional characteristics are needed. Only 27% had the upper limb deficiencies commonly associated with the syndrome. Growth was retarded in nearly all individuals, often of prenatal onset. Medical problems occurred frequently and most often involved the eye and ear, as well as the cardiac and gastrointestinal systems. Of 14 deaths, almost half were secondary to cardiac or gastrointestinal complications. The recurrence risk in 377 sibs of the patients was calculated to be less than 1%. Although development lagged significantly in speech, most individuals developed good self-help skins. The study demonstrated a higher proportion of patients affected mildly with the syndrome than is commonly appreciated. This underscores the importance of early recognition and appropriate medical and developmental support. (C) 1993 Wiley-Liss, Inc.