McInerney-Leo AM et al: Fryns syndrome associated with recessive mutations in PIGN in two separate families. Hum Mutat. 37(7):695-702, 2016
Peron A et al: Prenatal and postnatal findings in five cases of Fryns syndrome. Prenat Diagn. 34(12):1227-30, 2014
Slavotinek AM: The genetics of common disorders - congenital diaphragmatic hernia. Eur J Med Genet. 57(8):418-23, 2014
Kantarci S et al: Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. Am J Med Genet A. 152A(10):2493-504, 2010
Dentici ML et al: A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. Eur J Med Genet. 52(6):421-5, 2009
Van Esch H et al: Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. Eur J Med Genet. 52(2-3):153-6, 2009
Yucesoy G et al: Fryns syndrome: case report and review of the literature. J Clin Ultrasound. 36(5):315-7, 2008
Alessandri JL et al: [Fryns syndrome. Report on 3 new cases.] Arch Pediatr. 14(7):903-7, 2007
Chen CP et al: Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1. Prenat Diagn. 27(10):967-9, 2007
Kantarci S et al: Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics. Am J Med Genet C Semin Med Genet. 145C(2):217-26, 2007
Benacerraf BR et al: Cleft of the secondary palate without cleft lip diagnosed with three-dimensional ultrasound and magnetic resonance imaging in a fetus with Fryns' syndrome. Ultrasound Obstet Gynecol. 27(5):566-70, 2006
Alessandri L et al: Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. Genet Couns. 16(4):363-70, 2005
Slavotinek AM: Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A. 124(4):427-33, 2004
Slavotinek A et al: Fryns Syndrome 1993
Cunniff C et al: Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. Pediatrics. 85(4):499-504, 1990
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Definitions
Autosomal recessive multiple congenital anomaly syndrome characterized by congenital diaphragmatic hernia (CDH) with pulmonary hypoplasia, characteristic facial appearance, distal digital hypoplasia
McInerney-Leo AM et al: Fryns syndrome associated with recessive mutations in PIGN in two separate families. Hum Mutat. 37(7):695-702, 2016
Peron A et al: Prenatal and postnatal findings in five cases of Fryns syndrome. Prenat Diagn. 34(12):1227-30, 2014
Slavotinek AM: The genetics of common disorders - congenital diaphragmatic hernia. Eur J Med Genet. 57(8):418-23, 2014
Kantarci S et al: Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH. Am J Med Genet A. 152A(10):2493-504, 2010
Dentici ML et al: A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. Eur J Med Genet. 52(6):421-5, 2009
Van Esch H et al: Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. Eur J Med Genet. 52(2-3):153-6, 2009
Yucesoy G et al: Fryns syndrome: case report and review of the literature. J Clin Ultrasound. 36(5):315-7, 2008
Alessandri JL et al: [Fryns syndrome. Report on 3 new cases.] Arch Pediatr. 14(7):903-7, 2007
Chen CP et al: Prenatal diagnosis of Fryns syndrome associated with a microdeletion at 8p23.1. Prenat Diagn. 27(10):967-9, 2007
Kantarci S et al: Congenital diaphragmatic hernia (CDH) etiology as revealed by pathway genetics. Am J Med Genet C Semin Med Genet. 145C(2):217-26, 2007
Benacerraf BR et al: Cleft of the secondary palate without cleft lip diagnosed with three-dimensional ultrasound and magnetic resonance imaging in a fetus with Fryns' syndrome. Ultrasound Obstet Gynecol. 27(5):566-70, 2006
Alessandri L et al: Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. Genet Couns. 16(4):363-70, 2005
Slavotinek AM: Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A. 124(4):427-33, 2004
Slavotinek A et al: Fryns Syndrome 1993
Cunniff C et al: Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia. Pediatrics. 85(4):499-504, 1990
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