Literature DB >> 3950939

A case of Fryns syndrome.

I D Young, K Simpson, R M Winter.   

Abstract

A case of Fryns syndrome is presented. Characteristic features of this lethal autosomal recessive disorder include corneal clouding, camptodactyly with hypoplastic nails, and abnormalities of the diaphragm.

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Year:  1986        PMID： 3950939      PMCID： PMC1049547          DOI： 10.1136/jmg.23.1.82

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  5 in total

1.  Cerebro-hepato-renal syndrome of Zellweger. A report of eight cases with comments upon the incidence, the liver lesion, and a fault in pipecolic acid metabolism.

Authors:  D M Danks; P Tippett; C Adams; P Campbell
Journal:  J Pediatr       Date:  1975-03       Impact factor: 4.406

2.  A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities.

Authors:  J P Fryns; F Moerman; P Goddeeris; C Bossuyt; H Van den Berghe
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

3.  Biochemical studies in the liver and muscle of patients with Zellweger syndrome.

Authors:  J M Trijbels; J A Berden; L A Monnens; J L Willems; A J Janssen; R B Schutgens; M van den Broek-Van Essen
Journal:  Pediatr Res       Date:  1983-06       Impact factor: 3.756

4.  Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome.

Authors:  M Lubinsky; C Severn; J M Rapoport
Journal:  Am J Med Genet       Date:  1983-03

5.  Diaphragmatic defects, craniofacial dysmorphism, cleft palate and distal limb deformities. - a new lethal syndrome.

Authors:  P Goddeeris; J P Fryns; H van den Berghe
Journal:  J Genet Hum       Date:  1980-03
  5 in total
  3 in total

1.  Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia.

Authors:  J P Fryns
Journal:  J Med Genet       Date:  1987-05       Impact factor: 6.318

2.  Congenital diaphragmatic hernia: influence of associated malformations on survival.

Authors:  P M Jones
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  1994-03       Impact factor: 5.747

3.  Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features: a distinct autosomal recessive syndrome?

Authors:  L I al-Gazali; D Donnai; R F Mueller
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318
  3 in total

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