PDF(Pubmed)
Abstract：
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder that affects fetal growth in which those afflicted present with features pertaining to that, such as macrosomia, macroglossia, hemihypertrophy, and abdominal wall defects. This case reports the presentation of an infant diagnosed with BWS who was born with an extremely low birth weight of 980 grams, in contrast to the typical presentation of overgrowth and macrosomia. As a result, reaching a diagnosis of BWS was delayed until the patient reached eight months of age, when other clinical features of BWS, such as hemihypertrophy, became apparent on follow-up visits. Although genetic testing can be used to diagnose this condition, a clinical scoring system consisting of a patient\'s clinical features is sufficient, allowing for a timely and precise diagnosis, which is of great significance to allow for early screening and detection of the associated embryonal tumors with such a syndrome.
摘要：
Beckwith-Wiedemann综合征（BWS）是一种影响胎儿生长的遗传性疾病，比如巨大儿,巨舌,半肥大,和腹壁缺陷。该病例报告了一名被诊断患有BWS的婴儿，出生时体重极低，为980克，与过度生长和巨大儿的典型表现相反。因此,BWS的诊断被推迟到患者达到八个月大，当BWS的其他临床特征时，比如半肥大，在后续访问中变得明显。虽然基因检测可以用来诊断这种情况，由患者的临床特征组成的临床评分系统就足够了，允许及时准确的诊断，这对于早期筛查和检测与此类综合征相关的胚胎性肿瘤具有重要意义。
