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Fryns syndrome

Known as: fryn syndrome, Diaphragmatic hernia, abnormal face, and distal limb anomalies, Moerman Van den berghe Fryns syndrome 
A rare syndrome inherited in an autosomal recessive pattern. It is characterized by the presence of diaphragmatic defects, distinctive facial… 
National Institutes of Health

Related topics

Related topics

39 relations
Aganglionosis, ColonicAgenesis of corpus callosumAnus, ImperforateAortic arch anomalies

Broader (4)

Congenital AbnormalityDiaphragmatic HerniaFaciesLimb Deformities, Congenital

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2007
2007
[Fryns syndrome. Report on 3 new cases].
BACKGROUND Fryns syndrome is a lethal autosomal recessive syndrome which includes congenital diaphragmatic hernia (CDH… 
2007
2007
Mycophenolate mofetil therapy for children with intractable nephrotic syndrome
Background: Cyclosporin A (CyA) can suppress relapses and reduce proteinuria in frequent‐relapse nephrotic syndrome (FRNS) and… 
2000
2000
Discordant phenotype in monozygotic twins with Fryns syndrome.
We report on a pair of monozygotic twins with Fryns syndrome discordant for severity of diaphragmatic defect. Both twins had… 
Review
2000
Review
2000
Long-term clinical and pathological effects of cyclosporin in children with nephrosis
Abstract The clinical course of eight children with minimal change disease (MCNS) who were treated with cyclosporin (CYA) was… 
Review
1998
Review
1998
Experience with six children with fetal rhabdomyomatous nephroblastoma: review of the clinical, biologic, and pathologic features.
BACKGROUND Fetal rhabdomyomatous nephroblastoma (FRN) is a rare variant of Wilms tumor. MATERIALS AND RESULTS One hundred and… 
1993
1993
Pallister-Killian and Fryns syndromes: nosology.
Fryns syndrome is a lethal autosomal recessive multiple congenital anomaly syndrome characteristic "coarse" facies, cleft palate… 
1992
1992
Long-term, low-dose prednisolone therapy in frequently relapsing nephrotic syndrome
The efficacy of daily administration of a small dose of prednisolone was examined in 21 patients with corticosteroid-responsive… 
1991
1991
Osteochondrodysplasia in Fryns syndrome.
Various skeletal abnormalities have been identified in roentgenograms of persons with Fryns syndrome, but to our knowledge, no… 
Highly Cited
1990
Highly Cited
1990
Fryns syndrome: an autosomal recessive disorder associated with craniofacial anomalies, diaphragmatic hernia, and distal digital hypoplasia.
Fryns syndrome is an autosomal recessive, genetically determined condition with variable expression, which includes abnormal… 
1986
1986
A case of Fryns syndrome.
A case of Fryns syndrome is presented. Characteristic features of this lethal autosomal recessive disorder include corneal… 
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