A patient is described with severe mental retardation, a peculiar face with small palpebral fissures and premature balding, habitual patella luxations, small hands and feet, and hypogonadism, a combination which appears to represent a new syndrome.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016787PMC
http://dx.doi.org/10.1136/jmg.28.2.140DOI Listing

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