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2009 | 81 | 3 | 149-155

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Fryns Syndrome - Case Report. Documentation of Anomalies not Described Previously and Review of the Literature


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Fryns syndrome is a rare and most often lethal autosomal recessive complex congenital malformation. We report on a case of Fryns syndrome with "coarse facies", broad nasal bridge, dysmorphic low-appearing ears, left cleft lip and palate, left congenital diaphragmatic hernia with lung hypoplasia, distal digital limb hypoplasia of fifth's finger and thumbs, ureter ectopia to the persistent urogenital sinus, bilateral megaureters and hydronephrosis, agenesia of corpus callosum, hernia of the umbilical cord, Meckel's diverticulum, malrotation, choledochal cyst and bilateral inguinal hernia. The persistent urogenital sinus with ectopic ureters and choledochal cyst were not previously described in the literature in association with other features of Fryns syndrome. These malformations add to our knowledge of the phenotype of Fryns syndrome.








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1 - 3 - 2009
8 - 9 - 2009


  • Department of Pediatric Surgery and Organ Transplantation, Children's Memorial Health Institute, Warsaw
  • Department of Pediatric Surgery and Organ Transplantation, Children's Memorial Health Institute, Warsaw
  • Department of Pediatric Surgery and Organ Transplantation, Children's Memorial Health Institute, Warsaw
  • Department of Pediatric Surgery and Organ Transplantation, Children's Memorial Health Institute, Warsaw
  • Department of Pediatric Surgery and Organ Transplantation, Children's Memorial Health Institute, Warsaw


  • Fitch N, Srolovitz H, Robitaille Y et al.: Absent left hemidiaphragm, arhinencephaly and cardiac malformations. J Med Genet 1978; 15: 399-410.[Crossref]
  • Fryns JP, Moerman F, Goddeeris P et al.: A new lethal syndrome with cloudy cornea, diaphragmatic defect and distal limb deformities. Hum Genet 1979: 50: 65-70.
  • Bamforth JS, Leonard CO, Chodirker BN et al.: Congenital diaphragmatic hernia, coarse facies and acral hypoplasia: Fryns syndrome. Am J Med Genet 1989; 32: 93-99.[Crossref]
  • Ayme S, Julian C, Gambareei D et al.: Fryns syndrome: report on 8 new cases. Clin Genet 1989; 35: 191-201.
  • Pinar H, Carpenter MW, Abuelo D et al.: Fryns syndrome: a new definition. Ped Pathol 1994; 14: 467-78.[Crossref]
  • The Congenital Diaphragmatic Hernia Study group: Fryns syndrome in children with congenital diaphragmatic hernia. J Ped Surg 2002; 12: 1685-87.
  • Alkuraya FS, Lin AE, Irons MB et al.: Fryns syndrome with Hirschsprung disease: support for possible neural crest involvement. Am J Genet 2005; 132A: 226-30.
  • Davis C, Samarakkody U: Fryns syndrome: a surviving case with associated Hirschsprung disease and hemidiaphragmatic agenesis. J Ped Child Health 2002; 38: 318-20.
  • Bartsch O, Meinecke P, Kamin G: Fryns syndrome: two further cases without lateral diaphragmatic defects. Clin Dysmorphol 1995; 4: 352-58.[PubMed]
  • Wilgenbus KK, Eugers R, Crombach G et al.: Two fetuses with Fryns syndrome without diaphragmatic defects. J Med Genet 1994; 31: 962-64.[Crossref]
  • Cursiefen C, Schlotzer-Schrehardt U, Holbach LM et al.: Ocular findings in Fryns syndrome. Acta Ophtalmol Scand 2000; 78: 710-13.[Crossref]
  • Arnold SR, Debich-Spicer D, Opitz JM et al.: Documentation of anomalies not previously described in Fryns syndrome. Am J Med Genet 2003; 116A: 179-82.
  • Dix U, Beudt U, Langenbeck U: Fryns syndrom - prä- und postnatale diagnose. Z Geburtsh u Perin 1991; 195: 280-84.
  • Stratton RF, Young RS, Heiman HS et al.: Fryns syndrome. Am J Med Genet 1993; 45(5): 562-64.[Crossref]
  • Ficcadenti A, Lorenzini L, Brocani P et al.: Fryns syndrome. Description of a case. Pathologica 1993; 85(1096): 233-39.
  • Hanssen AM, Schrander-Stumpel CT, Thiry PA et al.: Fryns syndrome: another example of non-lethal outcome with severe mental handicap. Genet Couns 1999; 10(3): 329-30.
  • Jog SM, Patole SK, Whitehall JS: Fryns syndrome. Image in Med 2002; 48: 129-30.
  • Langer JC, Withrop AL, Hamilton DW: Fryns syndrome: a rare familial cause of congenital diaphragmatic hernia. J Ped Surg 1994; 9: 1266-67.
  • Willem PJ, Keersmaeker GHA, Dom KE: Fryns syndrome without diaphragmatic hernia? Am J Med Genet 1991; 41: 255-57.[Crossref]
  • Goddeeris P, Fryns JP, Van den Berghe H: Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities: a new lethal syndrome. J Genet Hum 1980; 28: 57-60.
  • Lubinsky M, Severn C, Rapoport JM: Fryns syndrome: a new variable multiple congenital anomaly (CMA) syndrome. Am J Med Genet 1983; 14: 461-66.[PubMed][Crossref]
  • Jones KL: Smith's Recognizable Patterns of human Malformation. Wyd 5, W.B. Saunders & Co, 1997.
  • Pierson DM, Taboada E, Butler MG: Eye abnormalities in Fryns syndrome. Am J Med Gene, 2004; 125(A): 273-77.
  • Van Hove JLK, Spiridigliozzi GA, Heinz R et al.: Fryns syndrome surviviors and neurological outcome. Am J Med Genet 1995; 59: 334-40.[Crossref]
  • Philip N, Gambarelli D, Guys JM et al.: Epidemiological study of congenital diaphragmatic defects with special references to etiology. Eur J Pediatr 1991; 150: 726-29.
  • Dingens M, Fryns JP: Hematometra and sudden death after status epilepticus in an adolescent female with Fryns syndrome. Genet Couns 1999; 15: 399-401.
  • Ramsing M, Gillessen-Kaesbach G, Holzgreve W et al.: Expression of Fryns syndrome: a report of two sib ships. Am J Med Genet 2000; 95(5): 415-24.[Crossref]
  • Deprest J, Gratacos E, Nicolaides KH: Fetoscopic tracheal occlusion (FETO) for severe congenital diaphragmatic hernia: evolution of a technique and preliminary results. Ultras Obstetr Gynecol 2004; 24: 121-26.[Crossref]
  • Slavotinek AM: Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet 2004; 124(A): 427-33.

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