|1.||Slavotinek, Anne M: 3 articles (08/2014 - 05/2005)|
|2.||Dott, B: 2 articles (10/2012 - 01/2008)|
|3.||Samperiz, S: 2 articles (07/2007 - 01/2005)|
|4.||Attali, T: 2 articles (07/2007 - 01/2005)|
|5.||Ramful, D: 2 articles (07/2007 - 01/2005)|
|6.||Tiran-Rajaofera, I: 2 articles (07/2007 - 01/2005)|
|7.||Pilorget, H: 2 articles (07/2007 - 01/2005)|
|8.||Brayer, C: 2 articles (07/2007 - 01/2005)|
|9.||Lin, Angela E: 2 articles (12/2005 - 01/2005)|
|10.||Gilbert-Barness, Enid: 2 articles (04/2004 - 01/2003)|
03/01/2014 - "Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns-like syndrome? "
08/01/2010 - "Presence of diaphragmatic hernia makes this syndrome, prenatally letal, similar to the Fryns syndrome and then requires skin biopsy and fibroblast chromosome examination for cytogenetic diagnosis."
12/15/2005 - "Patients with Fryns syndrome have a high rate of CVMs, warranting thorough cardiac evaluation including echocardiogram (fetal and/or postnatal) in all patients, similar to the evaluation for other patients with diaphragmatic hernia. "
01/01/2005 - "Even in the absence of diaphragmatic hernia, pulmonary anomalies are described in Fryns syndrome, especially pulmonary hypoplasia. "
01/01/2005 - "Cases of Fryns syndrome without diaphragmatic hernia are reviewed. "
|2.||Chromosome Aberrations (Chromosome Abnormalities)
07/01/2007 - "Phenotypes with CDH similar to Fryns syndrome have been described with cytogenetic aberrations with G-banded chromosome analysis and submicroscopic chromosome deletions detected by high resolution karyotyping or array comparative genomic hybridization (CGH). "
01/01/2006 - "Given prior reports of CDH in association with cytogenetic abnormalities in this region, we propose that this represents a locus for Fryns syndrome, a Fryns syndrome phenocopy, or CDH."
10/01/1993 - "The incidence of chromosomal abnormality was 5% and Fryns' syndrome 4%."
07/01/2007 - "Exclusion of chromosome aberrations (including isochromosome 12p in skin fibroblasts) is needed prior to making the diagnosis of Fryns syndrome. "
08/15/1993 - "Because the chromosome abnormality in Pallister-Killian syndrome is often limited to fibroblasts and may be selectively eliminated both in vivo and in vitro, some Pallister-Killian patients may be misdiagnosed with Fryns syndrome and given an erroneously high recurrence risk. "
|4.||Autistic Disorder (Autism)
05/01/2010 - "However, recent microarray-based studies have identified deletions of SUSD4 gene in patients with autism or Fryns syndrome, both of which are genetic diseases with severe abnormal neurological development and/or functions. "
05/01/2010 - "These results provide the first insight into the important physiological roles of SUSD4 and could help to better understand the pathogenesis of autism and Fryns syndrome."
|5.||Cleft Palate (Palate, Cleft)
06/01/2003 - "Cleft-palate lateral synechia syndrome: insight into the phenotypic spectrum of Fryns syndrome?"
11/01/1991 - "We report on a child with Fryns syndrome including lung hypoplasia, characteristic facial appearance, cleft palate, cardiac anomaly, distal limb abnormalities, absent nipples, bicornuate uterus and early death. "
05/01/2006 - "The detection of the cleft palate was instrumental in suggesting the diagnosis of Fryns' syndrome in a fetus which also had a diaphragmatic hernia. "
08/15/1993 - "We report on an infant with many manifestations of Fryns syndrome ("coarse" face, cleft palate, cloudy corneae, diaphragmatic hernia, distal digital hypoplasia, and neonatal death) who was found to be mosaic for i(12p). "
07/01/2007 - "Fryns syndrome is a lethal autosomal recessive syndrome which includes congenital diaphragmatic hernia (CDH), pulmonary hypoplasia, cranio-facial manifestations including a coarse face, a cleft palate / lip and cloudy corneae, distal limb hypoplasia and internal malformations including central nervous system, cardiovascular, gastrointestinal, urogenital and skeletal anomalies. "
|1.||Pallister Killian syndrome
|2.||Congenital diaphragmatic hernia
|5.||Anophthalmia with pulmonary hypoplasia
|6.||Omphalocele cleft palate syndrome lethal
|10.||Multiple pterygium syndrome lethal type