Laurence-Moon-Biedl syndrome (?) and Prader-Willi syndrome (?) in a single family.
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.
D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000150:complications; D008607:Intellectual Disability / Q000150:complications; D007849:Laurence-Moon Syndrome / Q000150:complications / Q000235:genetics*; D008297:Male; D009765:Obesity / Q000150:complications; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000150:complications / Q000235:genetics*