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Fryns syndrome
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References
These sources were used to develop the Genetics Home Reference
condition summary
on Fryns syndrome.
Cunniff C, Jones KL, Saal HM, Stern HJ. Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. Pediatrics. 1990 Apr;85(4):499-504.
PubMed citation
Gene Review: Fryns
Syndrome
Lin AE, Pober BR, Mullen MP, Slavotinek AM. Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? Am J Med Genet A. 2005 Dec 15;139(3):186-93. Review.
PubMed citation
Moerman P, Fryns JP, Vandenberghe K, Devlieger H, Lauweryns JM. The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome. Am J Med Genet. 1988 Dec;31(4):805-14.
PubMed citation
Neville HL, Jaksic T, Wilson JM, Lally PA, Hardin WD Jr, Hirschl RB, Langham MR Jr, Lally KP; Congenital Diaphragmatic Hernia Study Group. Fryns syndrome in children with congenital diaphragmatic hernia. J Pediatr Surg. 2002 Dec;37(12):1685-7.
PubMed citation
Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H. Variability in the phenotypic expression of fryns syndrome: A report of two sibships. Am J Med Genet. 2000 Dec 18;95(5):415-24.
PubMed citation
Slavotinek A, Lee SS, Davis R, Shrit A, Leppig KA, Rhim J, Jasnosz K, Albertson D, Pinkel D. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet. 2005 Sep;42(9):730-6.
PubMed citation
Slavotinek AM, Schauer G, Machin G, Dasouki M, Rueda-Pedraza ME, Chiricosta F, Keller R. Fryns syndrome: report of eight new cases. Genet Med. 2005 Jan;7(1):74-6.
PubMed citation
Slavotinek AM. Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A. 2004 Feb 1;124A(4):427-33. Review.
PubMed citation
Reviewed: May 2010
Published: May 20, 2013
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