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Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family

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Abstract

Mental retardation, hypogonadism, obesity, and abnormal blood sugar regulation were common findings in two siblings. In addition, the 17-year-old female patient showed short stature, muscular hypotonia in infancy, and small hands with tapering fingers suggesting Prader-Willi syndrome, and the 12-year-old male patient showed retinitis pigmentosa, normal height, and normal muscular tonicity suggesting Laurence-Moon-Biedl syndrome, though polydactyly was absent. Possible consideration was discussed.

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Endo, M., Tasaka, Y., Matsuura, N. et al. Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family. Eur J Pediatr 123, 269–276 (1976). https://doi.org/10.1007/BF00444648

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