A 4-YEAR-OLD girl, the offspring of first cousins, was referred for evaluation of unusual appearance. She had a history of frequent upper respiratory tract infections. She was of normal intelligence. Her height, weight, and head circumference were all at the 50th percentile for age. The midface was hypoplastic, with depression of the nasal bridge. The nose was small and flat (Figure 1). The distal phalanges of the thumbs and fingers were short and broad. A grade 2-3/6 systolic murmur was heard over the entire thorax and parascapular areas. Figure 1. View LargeDownload Serum calcium, phosphorous, and alkaline phosphatase levels were normal. A chest x-ray film showed striking calcification of the tracheobronchial tree (Figure 2). Stippled epiphyses were present in the shoulders (Figure 3) and knees on skeletal survey. The distal phalanges appeared short on x-ray films of the hands (Figure 4). Results of an audiogram were normal. Echocardiographic examination revealed mild peripheral pulmonary stenosis. The chromosomal analysis revealed a karyotype of 46, XX. Figure 2. View LargeDownload Figure 3. View LargeDownload Figure 4. View LargeDownload
Archives of Pediatrics & Adolescent Medicine – American Medical Association
Published: Jul 1, 1999
Keywords: peripheral pulmonary artery stenosis,echocardiography,karyotype determination procedure,alkaline phosphatase,audiometry,chondrodysplasia punctata,depressive disorders,intelligence,knee region,chest x-ray,thumb,x-ray film,fingers,hand,nose,phosphorus,shoulder region,chest,systolic heart murmur,upper respiratory infections,karyotype 46, xx,head circumference,chromosome analysis,tracheobronchial tree,calcium test, serum,calcification
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