Perlman syndrome: Report, prenatal findings and review

American Journal of Medical Genetics, Part A

Volumn 146, Issue 19, 2008, Pages 2532-2537

  Alessandri, Jean Luc ^a,c   Cuillier, Fabrice ^a   Ramful, Duksha ^a   Ernould, Sandrine ^a   Robin, Stéphanie ^a   De Napoli Cocci, Stefan ^a   Rivière, Jean Pierre ^a   Rossignol, Sylvie ^b  

^a Centre Hospitalier Regional Felix Guyon   (France)

^b INSERM   (France)

^c site centre hospitalier Félix Guyon   (France)

Author keywords

Fetal ascites; Fetal overgrowth; Nephroblastomatosis; Perlman syndrome; Wilms tumor

Indexed keywords

ARTICLE; ASCITES; CASE REPORT; CDKN1C GENE; EPIGENETICS; FEMALE; GENE MUTATION; GPC3 GENE; HUMAN; HUMAN TISSUE; HYDRAMNIOS; INFANT; MACROSOMIA; MALFORMATION SYNDROME; NEPHROBLASTOMA; NEPHROMEGALY; NEWBORN MORTALITY; PERLMAN SYNDROME; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

AMNIOTIC FLUID; FATAL OUTCOME; FEMALE; FETAL MACROSOMIA; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT, NEWBORN; KIDNEY; POLYHYDRAMNIOS; PREGNANCY; PRENATAL DIAGNOSIS; SYNDROME; ULTRASONOGRAPHY, PRENATAL; WILMS TUMOR;

EID: 55449104590     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32391     Document Type: Article

References (29)

1. Berry PJ. 1987. Congenital tumors. In: Keeling JW, editor. Fetal and neonatal pathology. Springer-Verlag. p 237-240.
2. Bove KE. 1999. Wilms' tumor and related abnormalities in the fetus and newborn. Seminars Perinatol 23:310-318.
3. Chernos JE, Foxler SB, Cox DM. 1990. A case of Perlman syndrome associated with a cytogenetic abnormality of chromosome 11. Am J Hum Genet 47:A28.
4. Chitty LS, Clark T, Maxwell D. 1998. Perlman syndrome: A cause of enlarged, hyperechogenic kidneys. Prenatal Diagn 18:1163-1168.
5. Coppin B, Moore I, Hatchwell E. 1997. Extending the overlap of three congenital overgrowth syndromes. Clin Genet 51:375-378.
6. DeRoche ME, Craffey A, Greenstein R, Borgida AF. 2004. Antenatal sonographic features of Perlman syndrome. J Ultrasound Med 23:561-564.
7. Elliott M, Bayly R, Cole T, Temple IK, Maher ER. 1994. Clinical features and natural history of Beckwith-Wiedemann syndrome. Presentation of 74 new cases. Clin Genet 46:168-174.
8. Fahmy J, Kaminsky CK, Parisi MT. 1998. Perlman syndrome: A case report emphasizing its similarity to and distinction from Beckwith-Wiedemann and prune-belly syndromes. Pediatr Radiol 28:179-182.
9. kip2 mutation in Beckwith-Wiedemann Syndrome. Horm Res 54:1-5.
10. Gaston V, Le Bouc Y, Soupre V, Burglen L, Donadieu J, Oro H, Audry G, Vazquez MP, Gicquel C. 2001. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. Eur J Hum Genet 9:409-418.
11. Greenberg F, Stein F, Gresik MV, Finegold MJ, Carpenter RJ, Riccardi VM, Beaudet AL. 1986. The Perlman familial nephroblastomatosis syndrome. Am J Med Genet 24:101-110.
12. Greenberg F, Copeland K, Gresik MV. 1988. Expanding the spectrum of the Perlman syndrome. Am J Med Genet 29:773-776.
13. Grundy RG, Pritchard J, Baraitser M, Risdon A, Robards M. 1992. Perlman and Wiedemann-Beckwith syndromes: Two distinct conditions associated with Wilms' tumour. Eur J Pediatr 151:895-898.
14. Hamel BCJ, Mannens M, Bokkerink JPM. 1989. Perlman syndrome. Report of a case and results of molecular studies. Am J Med Genet 45:A48.
15. Henneveld HT, van Lingen RA, Hamel BCJ, Solte-Dijkstra I, van Essen AJ. 1999. Perlman syndrome: Four additional cases and review. Am J Med Genet 86:439-446.
16. Herman TE, McAlister WH. 1995. Perlman syndrome: Report of a case with additional radiographic findings. Pediatr Radiol 25:S70-S72.
17. Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, Wilkings-Haug L, Day- Salvatore D, Yong SL, Geraghty MT, Squire J, Weksberg R. 2001. GPC3 mutaton analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. Am J Med Genet 102:161-168.
18. Liban E, Kozenitsky IL. 1970. Metanephric hamartomas and nephroblastomatosis in siblings. Cancer 25:885-888.
19. Lonergan GJ, Martinez-Leon MI, Agrons GA, Montemarano H, Suarez ES. 1998. Nephrogenic rests, nephroblastomatosis and associated lesions of the kidney. Radiographics 18:947-968.
20. Neri G. 2002. Simpson-Golabi-Behmel syndrome. In: Cohen MM Jr, Neri G, Weksberg R, editors. Overgrowth syndromes. Oxford University Press. p 38-46.
21. Neri G, Martini-Neri ME, Katz BE, Opitz JM. 1984. The Perlman syndrome of familial renal dysplasia with Wilms tumor, fetal gigantism, and multiple congenital anomalies. Am J Med Genet 19:195-207.
22. Perlman M, Goldberg GM, Bar-Ziv J, Danovitch G. 1973. Renal hamartomas and nephroblastomatosis with fetal gigantism: A familial syndrome. J Pediatr 83:414-418.
23. Perlman M, Levin M, Wittels B. 1975. Syndrome of fetal gigantism, renal hamartomas, and nephroblastomatosis with Wilms'tumor. Cancer 35:1212-1217.
24. Piccione M, Cecconi M, Giuffrè M, Lo Curto M, Malacarne M, Piro E, Riccio A, Corsello G. 2005. Perlman syndrome: Clinical report and nine-year follow-up. Am J Med Genet Part A 139A:131-135.
25. Pirgon O, Atabek ME, Akin F, Sert A. 2006. A case of Perlman syndrome presenting with hemorrhagic hemangioma. J Pediatr Hematol Oncol 28:531-533.
26. Schilke K, Schaefer F, Waldherr R, Rohrschneider W, John C, Himbert U, Mayatepek E, Tariverdian G. 2000. A case of Perlman syndrome: Fetal gigantism, renal dysplasia, and neurological deficits. Am J Med Genet 91:29-33.
27. van der Stege JG, van Eyck J, Arabin B. 1998. Prenatal ultrasound observations in subsequent pregnancies with Perlman syndrome. Ultrasound Obstet Gynecol 11:149-151.
28. Verloes A, Massart B, Dehalleux I, Langhendries JP, Koulischer L. 1995. Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: A diagnosis pitfall. Clin Genet 47:257-262.
29. Weksberg R. 2002. Beckwith-Wiedemann syndrome. In: Cohen MM Jr, Neri G, Weksberg R, editors. Overgrowth syndromes. Oxford University Press. p 11-31.