Literature DB >> 7400786

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

P Goddeeris, J P Fryns, H van den Berghe.   

Abstract

We recently described a new lethal malformation syndrome, characterized by typical craniofacial dysmorphism, cleft soft palate, distal limb hypoplasia and diaphragmatic defects. We here report an additional case, which tends to confirm that this syndrome represents a distinct entity among the lethal malformation syndromes.

Entities:  

Mesh：

Year:  1980        PMID： 7400786

Source DB:  PubMed          Journal:  J Genet Hum        ISSN： 0021-7743


  4 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.  A case of Fryns syndrome.

Authors:  I D Young; K Simpson; R M Winter
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

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

Review 4.  Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics.

Authors:  Giulia Cannata; Chiara Caporilli; Federica Grassi; Serafina Perrone; Susanna Esposito
Journal:  Int J Mol Sci       Date:  2021-06-14       Impact factor: 5.923
  4 in total

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