Prader-Willi habitus, osteopenia, and camptodactyly (Urban-Rogers-Meyer syndrome): a probable second report.
Here we describe a 12-year-old boy with finger and toe contractures, obesity, mental retardation, osteoporosis, and genital anomalies. This clinical picture was first described by Urban et al. [1979] and has been designated as "Prader-Willi habitus, osteoporosis, and hand contractures." To our knowledge, our patient represents the second report of this condition.
Pagnan
N A
NA
Servico de Genética Humana da Maternidade de São Paulo, Brazil.
Gollop
T R
TR
D002648:Child; D005530:Foot Deformities / Q000235:genetics*; D005808:Genes, Recessive; D008040:Genetic Linkage; D006226:Hand Deformities / Q000235:genetics*; D006801:Humans; D008297:Male; D010024:Osteoporosis / Q000235:genetics*; D011218:Prader-Willi Syndrome / Q000235:genetics*; D014960:X Chromosome