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Perlman syndrome is a rare autosomal recessive overgrowth syndrome with earlier neonatal mortality. Maximum survival documented in the literature is up to nine years 4.
Perlman syndrome is demonstrated by a combination of many clinical features which includes polyhydramnios, neonatal macrosomia, visceromegaly, nephromegaly, fetal ascites and cryptorchidism 1-4.
Like other overgrowth syndromes, children are at a much higher risk of developing Wilms tumor 1-4.
Differential diagnosis of Perlman syndrome includes:
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- 2. Ferianec V, Ferianec BM, Ferianec. Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation. (2014) The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. doi:10.3109/14767058.2013.864633 - Pubmed
- 3. Alessandri J, Alessandri CF, Alessandri RD, Alessandri ES, Alessandri RS, Alessandri dNCS, Alessandri RrJ, Alessandri RS, Alessandri. Perlman syndrome: report, prenatal findings and review. (2008) American journal of medical genetics. Part A. doi:10.1002/ajmg.a.32391 - Pubmed
- 4. Piccione M, Piccione CM, Piccione GM, Piccione LCM, Piccione MM, Piccione PE, Piccione RA, Piccione CG, Piccione. Perlman syndrome: clinical report and nine-year follow-up. (2005) American journal of medical genetics. Part A. doi:10.1002/ajmg.a.30994 - Pubmed
- 5. Herman T, Herman MW, Herman. Perlman syndrome: report of a case with additional radiographic findings. (1995) Pediatric radiology. doi: - Pubmed
- 7. DeRoche M, DeRoche CA, DeRoche GR, DeRoche BA, DeRoche. Antenatal sonographic features of Perlman syndrome. (2004) Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine. doi:10.7863/jum.2004.23.4.561 - Pubmed
- 8. Schilke K, Schilke SF, Schilke WR, Schilke RW, Schilke JC, Schilke HU, Schilke ME, Schilke TG, Schilke. A case of Perlman syndrome: fetal gigantism, renal dysplasia, and severe neurological deficits. (2000) American journal of medical genetics. doi:10.1002/(sici)1096-8628(20000306)91:1<29::aid-ajmg5>3.0.co;2-u - Pubmed
- 9. Henneveld HT, van Lingen RA, Hamel BC, Stolte-Dijkstra I, van Essen AJ. Perlman syndrome: four additional cases and review. Am J Med Genet. 1999 Oct 29;86(5):439-46. PMID: 10508986.