Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family
- 1 January 1976
- journal article
- research article
- Published by Springer Nature in European Journal of Nuclear Medicine and Molecular Imaging
- Vol. 123 (4) , 269-276
- https://doi.org/10.1007/bf00444648
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.Keywords
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