From the Divisions of Genetics (Drs Tüysüz and Cenani) and Radiology (Dr Üngüur), Department of Pediatrics, Cerrahpaşa Faculty of Medicine; and Institute of Cardiology (Dr Akalin), University of Istanbul, Istanbul, Turkey; and American Board of Pediatrics, Chapel Hill, NC (Dr Tunnessen).
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.
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.
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