title: A case of Perlman syndrome presenting with hemorrhagic hemangioma.
abstract: The presence of enlarged, echogenic kidneys in a newborn with generalized macrosomia points toward diagnosis of an overgrowth syndrome. These include Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes. Perlman syndrome is an autosomal recessively inherited overgrowth syndrome characterized by fetal gigantism, visceromegaly, unusual face, bilateral renal hamartomas with nephroblastomatosis, and Wilms tumor. We report a male infant who exhibits typical features of Perlman syndrome with an unusual presentation. In this report, it is emphasized that hemangioma in neonatal period may be an unusual finding in Perlman syndrome.
authors.affiliation: Department of Pediatric Endocrinology, School of Medicine, Selcuk University, Konya, Turkey. ozpirgon@hotmail.com
authors.forename: Ozgur
authors.initials: O
authors.lastname: Pirgon
authors.forename: Mehmet Emre
authors.initials: ME
authors.lastname: Atabek
authors.forename: Fatih
authors.initials: F
authors.lastname: Akin
authors.forename: Ahmet
authors.initials: A
authors.lastname: Sert
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D017809:Fatal Outcome; D006391:Hemangioma / Q000473:pathology / Q000601:surgery*; D006470:Hemorrhage / Q000601:surgery*; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D008297:Male; D013577:Syndrome; D014057:Tomography, X-Ray Computed / Q000379:methods