doi: 10.1007/BF00444648.
Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family
- PMID: 991874
- DOI: 10.1007/BF00444648
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Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family
Eur J Pediatr.
.
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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