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

✍ Scribed by M. Endo; Y. Tasaka; N. Matsuura; I. Matsuda

• Publisher: Springer
• Year: 1976
• Tongue: English
• Weight: 501 KB
• Volume: 123
• Category: Article
• ISSN: 0340-6997
• DOI: 10.1007/bf00444648

✦ Synopsis

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.