Trisomy 18 with Multiple Rare Malformations: Report of One Case

第18號染色體二染色體症是第二常見的先天異常疾病，其發生率爲千分之三，文獻上報告約有超過130種的異常表現；而Dandy-Walker異常爲小腦部份或完全發育不全合併後腦囊腫及水腦之腦部構造異常，其襲生率爲二萬五千到二萬分之一，雖然其可發生於染色體異常或基因異常疾病，但過去罕見發生於第18號染色體二染色體症之報告。本文報告－第18號染色體三染色體症之新生兒女嬰合併子宮內發育遲滯、氣管食道瘻管、食道閉鎖、橈骨缺失、拇指缺失、尺骨短、手指異常交疊、心臟異常、Meckel's憩室、胰臟異位及Dandy-Walker異常之多發性異常之罕見病例。

關鍵字

第18號染色體三染色體症； Dandy-Walker異常

並列摘要

Trisomy 18 syndrome is the second most common multiple malformation syndrome. The incidence is about 0.3 per 100 newborn babies. More than 130 different abnormalities have been noted in the literature on patients with the trisomy 18 syndrome. Trisomy 18 includes a broad spectrum of anomalies and malformations, among which we found Dandy-Walker malformation (DWM) rarely mentioned. DWM is estimated to occur in approximately 1 in 25,000 to 30,000 live births. The major components of DWM are the following: partial or complete absence of the cerebellar vermis, a posterior fossa cyst continuous with the fourth ventricle, and hydrocephalus. Although DWM has been associated with many chromosomal abnormalities and genetic syndromes in live birth, trisomy 18 with DWM is a rare condition. Here we present a female newborn with intrauterine growth retardation and multiple congenital abnormalities including: craniofacial anomaly, tracheoesophageal fistula, esophageal atresia, absent radius and thumb, short ulna, clenched hands, ventricular septal defect, coarctation of the aorta, patent ductus arteriosus, Meckel's diverticulum, ectopic pancreas in the ileum, and DWM. Her chromosome karyotype was 47, XX, +18. This is a case of Trisomy 18 with multiple rare malformations

並列關鍵字

trisomy 18 ； Dandy-Walker malformation

國際替代計量

Trisomy 18 with Multiple Rare Malformations: Report of One Case

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