Abstract
Fryns syndrome is an autosomal recessive multiple congenital anomaly syndrome characterized by diaphragmatic hernia, unusual facies, and distal limb hypoplasia. It was first reported as a lethal condition. We report on a three-year-old survivor with Fryns syndrome, and provide a review on the outcome of other survivors. Patients who survive the neonatal period represent 14% of reported cases. Characteristics of survivors include less frequent diaphragmatic hernia and milder lung hypoplasia, absence of complex cardiac malformation, and neurologic impairment. Multiple central nervous system abnormalities have been reported in Fryns syndrome, including agenesis of the corpus callosum, Dandy-Walker abnormality, cerebellar heterotopias, cerebellar hypoplasia, enlarged ventricles, and hypoplasia of the olfactory bulbs. Our patient exhibited profound mental retardation. He had malformations of gyration and sulcation, particularly around the central sulcus, and hypoplastic optic tracts beyond the optic chiasm. Understanding of long-term outcome of survivors is important for counseling of families with Fryns syndrome. Careful brain examination is advised; however, a normal radiological brain examination does not preclude developmental d...Continue Reading
References
Jan 1, 1979·Human Genetics·J P FrynsH Van den Berghe
Oct 1, 1978·Journal of Medical Genetics·N FitchF Guttman
Aug 1, 1976·Journal of Medical Genetics·T J David, C A Illingworth
Nov 1, 1992·Prenatal Diagnosis·D I BulasK Newman
Apr 1, 1992·Prenatal Diagnosis·M C PellissierF Giraud
Nov 1, 1991·Clinical Genetics·J C DeanG S Stephen
Nov 1, 1991·American Journal of Medical Genetics·P J WillemsJ E Dumon
Aug 1, 1991·European Journal of Pediatrics·N PhilipS Ayme
Aug 1, 1991·Journal of Medical Genetics·D R McLeodD I Hoar
Jul 1, 1990·American Journal of Medical Genetics·N Krassikoff, G S Sekhon
Nov 1, 1989·American Journal of Medical Genetics·R D Clark, M Fenner-Gonzales
Jan 1, 1989·American Journal of Medical Genetics·J S BamforthJ G Hall
Mar 1, 1989·Clinical Genetics·S AyméD Carles
Jul 1, 1989·Journal of Medical Genetics·G de JongA E Retief
Oct 1, 1988·Journal of Pediatric Surgery·D R BenjaminJ R Siebert
Mar 1, 1988·Human Genetics·H YoussoufianE W Jabs
Dec 1, 1988·American Journal of Medical Genetics·P MoermanJ M Lauweryns
Jan 1, 1987·Acta paediatrica Scandinavica·U SchwyzerA Schinzel
Jan 1, 1987·American Journal of Obstetrics and Gynecology·A SamueloffJ G Schenker
Feb 1, 1986·Journal of Medical Genetics·I D YoungR M Winter
Dec 1, 1985·Clinical Genetics·P Meinecke, J P Fryns
Mar 1, 1983·American Journal of Medical Genetics·M LubinskyJ M Rapoport
Jan 1, 1995·Prenatal Diagnosis·N GregersenM Gregersen
Aug 1, 1994·Prenatal Diagnosis·E C GadowL Prudent
Jul 1, 1993·Archives of Disease in Childhood·Y Sweed, P Puri
Aug 15, 1993·American Journal of Medical Genetics·E W McPhersonD J Salsburey
Oct 1, 1993·Clinical Radiology·E Dillon, M Renwick
Mar 1, 1993·American Journal of Medical Genetics·R F StrattonJ M Carter
Citations
Sep 12, 2000·American Journal of Medical Genetics·J E VargasB R Korf
May 31, 2008·Human Genetics·Anne M Slavotinek
Jun 6, 2002·Journal of Paediatrics and Child Health·C Davis, U Samarakkody
Jun 15, 2004·Clinical Dysmorphology·Pradeep C Vasudevan, Helen Stewart
Sep 18, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lisa G ShafferTamim Shaikh
Apr 29, 2011·Journal of Medical Genetics·Margaret J WatDaryl A Scott
Apr 23, 2013·Indian Journal of Pediatrics·Kamaldeep AroraRamesh Agarwal
Oct 19, 2010·European Journal of Medical Genetics·Jill A RosenfeldLisa G Shaffer
Oct 6, 2009·European Journal of Medical Genetics·Maria Lisa DenticiBruno Dallapiccola
Apr 20, 2007·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·J-L AlessandriS Robin
May 23, 2009·Clinical Genetics·A M SlavotinekM D Bates
Sep 10, 2003·Birth Defects Research. Part A, Clinical and Molecular Teratology·April JaegerMichael Cunningham
May 31, 2008·Clinical Genetics·B R Pober
Jul 6, 2014·Prenatal Diagnosis·Angela PeronFaustina Lalatta
Jan 22, 2004·American Journal of Medical Genetics. Part a·Anne M Slavotinek
Mar 3, 2004·American Journal of Medical Genetics. Part a·Diane M PiersonMerlin G Butler
Dec 21, 2002·American Journal of Medical Genetics. Part a·Sonya Rae ArnoldEnid Gilbert-Barness
Dec 18, 2001·American Journal of Medical Genetics·I WittersJ P Fryns
Jan 14, 2018·European Journal of Human Genetics : EJHG·Jean-Luc AlessandriJulien Thevenon
Oct 27, 2007·Journal of Clinical Ultrasound : JCU·Gulseren YucesoyEray Caliskan
Nov 12, 2005·American Journal of Medical Genetics. Part a·Angela E LinAnne M Slavotinek
Jan 9, 2001·American Journal of Medical Genetics·M RamsingH Rehder
Oct 11, 2002·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Diane M PiersonMerlin G Butler
Jun 25, 2021·Frontiers in Genetics·Przemyslaw KosinskiAleksandra Jezela-Stanek