title: The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies.
abstract: We describe a familial syndrome of renal dysplasia, Wilms tumor, hyperplasia of the endocrine pancreas, fetal gigantism, multiple congenital anomalies and mental retardation. This condition was previously described by Perlman et al [1973, 1975] and we propose to call it the "Perlman syndrome." It appears to be transmitted as an autosomal recessive trait. The possible relationships between dysplasia, neoplasia and malformation are discussed.
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D005877:Gigantism / Q000175:diagnosis*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D007668:Kidney / Q000473:pathology; D007680:Kidney Neoplasms / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D011247:Pregnancy; D013577:Syndrome; D009396:Wilms Tumor / Q000175:diagnosis* / Q000473:pathology