SavedAdd your journal

Journals / Jinekoloji-Obstetrik ve Neonatoloji Tıp Dergisi / 2026 / Cilt: 22 Sayı: 1

PERLMAN SYNDROME: PRENATAL EVIDENCE AND POSTNATAL CONFIRMED

PERLMAN SENDROMU: PRENATAL VE POSTNATAL BULGULAR

Erdal Şeker(ANKARA UNIVERSITY, ANKARA FACULTY OF MEDICINE)0000-0001-9818-0414
Mehmet Seçkin Özışık(ANKARA UNIVERSITY, ANKARA FACULTY OF MEDICINE)0000-0002-5925-3454
Elvis Kraja(ANKARA UNIVERSITY, ANKARA FACULTY OF MEDICINE, MEDICINE PR.)0000-0002-2522-6191
Yasemin Ezgi Köstekçi(ANKARA UNIVERSITY, ANKARA FACULTY OF MEDICINE, MEDICINE PR.)0000-0002-4580-3128
Emel Okulu(ANKARA UNIVERSITY, ANKARA FACULTY OF MEDICINE, MEDICINE PR.)0000-0002-1101-3355
Acar Koç(ANKARA UNIVERSITY, ANKARA FACULTY OF MEDICINE, MEDICINE PR.)0000-0003-2482-7478
Pages
135–138
Publication Date
2025-03-22
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

He was diagnosed with Perlman syndrome (#267000) confirmed with a homozygous variant mutation in the DIS3L2 gene.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Perlman syndrome is an extremely rare syndrome characterized by polyhydramnios, fetal overgrowth, facial dysmorphism and visceromegaly, and inherited in an autosomal recessive fashion.
📊
Key Findings & Data:We here report a male infant born to consanguineous parents with prenatal history of polyhydramnios, fetal ascites, nephromegaly, corpus callosum agenesis and choroid plexus cysts, and presented with nephromegaly, hepatomegaly, cholestasis, cardiomegaly, cryptorchidism, respiratory distress, hypoglycemia, generalized muscle hypotonia after birth, and died due to progressive respiratory decompensation at the age of 6 months.
💡
Conclusion & Impact:He was diagnosed with Perlman syndrome (#267000) confirmed with a homozygous variant mutation in the DIS3L2 gene.
🔬Design:Olgu Sunumu
📍Scope:Comprehensive Sample
⚙️Variables:PERLMAN SENDROMU · NEFROMEGALİ · POLİHİDRAMNİYOS

Abstract

Perlman syndrome is an extremely rare syndrome characterized by polyhydramnios, fetal overgrowth, facial dysmorphism and visceromegaly, and inherited in an autosomal recessive fashion. We here report a male infant born to consanguineous parents with prenatal history of polyhydramnios, fetal ascites, nephromegaly, corpus callosum agenesis and choroid plexus cysts, and presented with nephromegaly, hepatomegaly, cholestasis, cardiomegaly, cryptorchidism, respiratory distress, hypoglycemia, generalized muscle hypotonia after birth, and died due to progressive respiratory decompensation at the age of 6 months. He was diagnosed with Perlman syndrome (#267000) confirmed with a homozygous variant mutation in the DIS3L2 gene.

Özet

Perlman sendromu, polihidramnios, fetal aşırı büyüme, yüz dismorfizmi ve visseromegali ile karakterize ve otozomal resesif bir şekilde kalıtılan son derece nadir bir sendromdur. Burada, prenatal polihidramnios, fetal asit, nefromegali, korpus kallozum agenezisi ve koroid pleksus kisti öyküsü olan ve nefromegali, hepatomegali, kolestaz, kardiyomegali, kriptorşidizm, solunum sıkıntısı, hipoglisemi, genelleştirilmiş kas hipotansiyonu ile başvuran akraba ailelerinden doğan bir erkek bebeği sunuyoruz. Doğumdan sonra ve 6 aylıkken ilerleyici solunum dekompansasyonu nedeniyle öldü. DIS3L2 geninde homozigot varyant mutasyonu ile doğrulanan Perlman sendromu (#267000) teşhisi kondu.

🔖

Cite This Article

Şeker, E., Özışık, M. S., Kraja, E., Köstekçi, Y. E., Okulu, E., Koç, A. (2025). PERLMAN SYNDROME: PRENATAL EVIDENCE AND POSTNATAL CONFIRMED. Jinekoloji-Obstetrik ve Neonatoloji Tıp Dergisi, Cilt: 22 Sayı: 1, 135–138. https://doi.org/10.38136/jgon.1144213

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (15)

  1. Astuti D, Morris MR, Cooper WN, Staals RH, Wake NC, Fews GA, et al. Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet. 2012;44(3):277-84. DOI: 10.1038/ng.1071.
  2. Katori K, Hirata K, Higa K, Shono S, Nitahara K. Anesthetic management of an infant with Perlman syndrome. Paediatr Anaesth. 2006;16(12):1289-90. DOI: 10.1111/j.1460-9592.2006.01986.x.
  3. Morris MR, Astuti D, Maher ER. Perlman syndrome: overgrowth, Wilms tumor predisposition and DIS3L2. Am J Med Genet C Semin Med Genet. 2013;163C(2):106-13. DOI: 10.1002/ajmg.c.31358.
  4. Higashimoto K, Maeda T, Okada J, Ohtsuka Y, Sasaki K, Hirose A, et al. Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome. Eur J Hum Genet. 2013;21(11):1316-9. DOI: 10.1038/ejhg.2013.45.
  5. Ferianec V, Bartova M. Beckwith-Wiedemann syndrome with overlapping Perlman syndrome manifestation. J Matern Fetal Neonatal Med. 2014;27(15):1607-9. DOI: 10.3109/14767058.2013.864633.
  6. Liban E, Kozenitzky IL. Metanephric hamartomas and nephroblastomatosis in siblings. Cancer. 1970;25(4):885-8. DOI: 10.1002/1097-0142(197004)25:4 3.0.co;2-#.
  7. Perlman M. Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism, and multiple congenital anomalies. Am J Med Genet. 1986;25(4):793-5. DOI: 10.1002/ajmg.1320250418.
  8. Perlman M, Goldberg GM, Bar-Ziv J, Danovitch G. Renal hamartomas and nephroblastomatosis with fetal gigantism: a familial syndrome. J Pediatr. 1973;83(3):414-8. DOI: 10.1016/s0022-3476(73)80264-1.
  9. Perlman M, Levin M, Wittels B. Syndrome of fetal gigantism, renal hamartomas, and nephroblastomatosis with Wilms' tumor. Cancer. 1975;35(4):1212-7. DOI: 10.1002/1097-0142(197504)35:4 3.0.co;2-2.
  10. Neri G, Martini-Neri ME, Katz BE, Opitz JM. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. Am J Med Genet. 1984;19(1):195-207. DOI: 10.1002/ajmg.1320190120.
  11. Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, et al. Perlman syndrome: report, prenatal findings and review. Am J Med Genet A. 2008;146A(19):2532-7. DOI: 10.1002/ajmg.a.32391.
  12. Piccione M, Cecconi M, Giuffre M, Lo Curto M, Malacarne M, Piro E, et al. Perlman syndrome: clinical report and nine-year follow-up. Am J Med Genet A. 2005;139A(2):131-5. DOI: 10.1002/ajmg.a.30994.
  13. Neri G. The Helena syndromes. Am J Med Genet A. 2006;140(19):2007-12. DOI: 10.1002/ajmg.a.31415.
  14. DeRoche ME, Craffey A, Greenstein R, Borgida AF. Antenatal sonographic features of Perlman syndrome. J Ultrasound Med. 2004;23(4):561-4. DOI: 10.7863/jum.2004.23.4.561.
  15. Demirel G, Oguz SS, Celik IH, Uras N, Erdeve O, Dilmen U. Rare clinical entity Perlman syndrome: is cholestasis a new finding? Congenit Anom (Kyoto). 2011;51(1):43-5. DOI: 10.1111/j.1741-4520.2010.00294.x.