A Case of Perlman Syndrome Presenting With Hemorrhagic Hemangioma

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Küçük Resim

Tarih

2006

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Lippincott Williams & Wilkins

Erişim Hakkı

info:eu-repo/semantics/openAccess

Özet

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.

Açıklama

Anahtar Kelimeler

Perlman syndrome, Hemangioma, Macrosomia

Kaynak

Journal of Pediatric Hematology Oncology

WoS Q Değeri

Q2

Scopus Q Değeri

Q3

Cilt

28

Sayı

8

Künye

Pirgon, Ö., Atabek, M. E., Akın, F., Sert, A., (2006). A Case of Perlman Syndrome Presenting With Hemorrhagic Hemangioma. Journal of Pediatric Hematology Oncology, 28(8), 531-533. Doi: 10.1097/01.mph.0000212971.83254.5a