Perlman syndrome--a cause of enlarged, hyperechogenic kidneys.
Perlman syndrome is a rare overgrowth syndrome, thought to be inherited in the autosomal recessive fashion. We describe the sonographic features in two cases, and review the literature.
Chitty
L S
LS
Division of Medical & Molecular Genetics UMDS, Guy's Hospital, London, U.K.
Clark
T
T
Maxwell
D
D
D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005320:Fetal Macrosomia / Q000150:complications; D005865:Gestational Age; D006801:Humans; D006869:Hydronephrosis / Q000150:complications / Q000000981:diagnostic imaging; D007674:Kidney Diseases / Q000150:complications / Q000000981:diagnostic imaging* / Q000473:pathology; D007680:Kidney Neoplasms / Q000150:complications; D008297:Male; D011247:Pregnancy; D013577:Syndrome; D016216:Ultrasonography, Prenatal; D009396:Wilms Tumor / Q000150:complications