Case 34-2016

Authors :: David A. Sweetser
Teresa C. Chen
Angela E. Lin
Sjirk J. Westra
Maria J. Troulis
Source :: New England Journal of Medicine. 375:1879-1890
Publication Year :: 2016
Publisher :: Massachusetts Medical Society, 2016.
Abstract: A 17-year-old boy was seen in the medical genetics clinic because of myopia, craniofacial and other skeletal abnormalities, and pectus excavatum. Ophthalmologic examination revealed ectopia lentis, and imaging studies showed osteoporosis. Diagnostic testing was performed.

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