Trisomy-18症候羣之一報告例

A Case Report of Trisomy-18 Syndrome

黃碧桃(Betau Hwang) ； 王昇(Sheng Wang-Wuu) ； 詹崑源(K. Y. Jan) ； 孟春昌(C. C. Laura Meng)

《Acta Paediatrica Sinica》 20卷1期 (1979/03) Pp. 47-50

摘要

Trisomy-18症候羣是罕見的染色體異常疾病，致病原因不明，可能與高齡生産的母親有關。每4,500個新生兒中約有1人罹患此病，病嬰多夭折。本病例出生後，發現爲典型的trisomy-18症，枕骨突出，小頷畸型，耳朶低位，口小，高穹窿腭，心臓可聽到收縮期雜音，有臍疝氣，骨盤發育不良，皮膚鬆弛，背部多毛，兩手掌發育不良，食指重疊於中指，小指重疊於無名指。後經染色體檢查，證實爲trisomy-18。此病例於2又二分之一個月時，因肺炎死亡。謹提出報告。

並列摘要

Trisomy-18 is a rare chromosomal disorder. The incidence of trisomy-18 in the general population was reported as one per 4,500 live births. A defective or aging ovum may play an important role for this disorder. Infants with trisomy-18 seldom live beyond the age of 6 months.
This girl infant was born after 42 weeks gestation with birth weight of 2,300 gm. The mother was 27 years old. There was no familial history of chromosomal disorder. The infant had prominent occipitus, micrognathia, small mouth, low-set ears, high and narrow palate arch, Gr. II/VI short systolic murmur over the left sternal border with accentuated second heart sound. Hepatomegaly, umbilical hernia, hypoplasia of the hip with limitation of abduction, redundancy and cutis marmoratum of skin, downy hair over back, ulnar deviation of both hands, hypoplasia of the thumb, overlapping of the second finger on the middle, and the 5th on the 4th.
Cardiac catheterization and angiocardiography demonstrated an inter-ventricular septal defect with pulmonary hypertension. The chromosomal study confirmed the ”trisomy-18 syndrome.”
The patient died of pneumonia at 2½ months of age.

並列關鍵字

trisomy-18 ； cutis marmoratum