Klippel-Feil syndrome associated with aortic coarctation.
暂无分享,去创建一个
A 13-year-old boy was admitted for investigation of coarctation of the aorta. At the age of 2 he underwent a laparotomy for bleeding Meckel's diverticulum and the diagnosis of coarctation of the aorta was made at that time. He had no symptoms and school performance was normal. There was no family history of heart disease and his parents and younger brother were well. On examination he was an intelligent, prepubertal boy, height 147 cm (30th centile) and weight 32 kg (10th centile). A short neck (Fig. 1) and low occipital hairline were noted but facial appearance was normal. There were no abnormalities of the palmar creases. Other relevant physical findings were limited to the cardiovascular system-radial pulses were equal and normal, femoral pulses were absent. The apex beat was not displaced and no thrills were palpable. A grade 2 systolic ejection murmur was audible all over the praecordium and over the scapulae. One collateral vessel was palpable over the right scapula. Blood pressure was 120/70 mmHg (16.0/9.3 kPa) in both arms. Fundi were normal. Chest x-ray film showed early rib notching and there was fusion of the second and third ribs on the right. Electrocardiogram showed left ventricular hypertrophy by voltage criteria. In view of his age, aortography was performed under general anaesthesia. At induction, endotracheal intubation proved impossible because of limited extension of the neck and anaesthesia was maintained with a face mask. Angiography revealed aortic coarctation distal to the left subclavian artery.
[1] D W Smith,et al. Recognizable patterns of human malformation. , 1976, Major problems in clinical pediatrics.
[2] L. W. Perry,et al. Congenital brevicollis (Klippel-Feil syndreom) and cardiovascular anomalies. , 1968, American journal of diseases of children.
[3] Klippel,et al. Un cas d'absence des vertébres cervicales cage thoracique remontant jusqu'a la base du crâne , 1912 .