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  • Title: Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family.
    Author: Endo M, Tasaka Y, Matsuura N, Matsuda I.
    Journal: Eur J Pediatr; 1976 Nov 03; 123(4):269-76. PubMed ID: 991874.
    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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