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Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family (1976)

Endo, M. ; Tasaka, Y. ; Matsuura, N. ; [et al.]

Springer

European journal of pediatrics 123 (1976), S. 269-276

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ISSN: 1432-1076

Keywords: Laurence-Moon-Biedl syndrome ; Prader-Willi syndrome

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: 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.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00444648

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