Osteoporosis - macrocephaly - blindness - joint hyperlaxity
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Summary
This syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family. *Author: Orphanet (September 2006)*.
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