Literature DB >> 8456824

Fryns syndrome.

R F Stratton1, R S Young, H S Heiman, J M Carter.   

Abstract

We report on a premature female infant with Fryns syndrome who had several less commonly reported anomalies. She had bilateral posterior eventration of the hemidiaphragms instead of the usual diaphragmatic defects with visceral herniation into the chest cavity. She also had a unilateral cleft lip, camptodactyly, duodenal atresia, tracheomalacia, bronchomalacia, and Tetralogy of Fallot.

Entities:  

Mesh:

Year:  1993        PMID: 8456824     DOI: 10.1002/ajmg.1320450507

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  3 in total

Review 1.  Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.

Authors:  Christian P Schaaf; Janet Koster; Panagiotis Katsonis; Lisa Kratz; Oleg A Shchelochkov; Fernando Scaglia; Richard I Kelley; Olivier Lichtarge; Hans R Waterham; Marwan Shinawi
Journal:  Am J Med Genet A       Date:  2011-06-10       Impact factor: 2.802

2.  Primary bronchomalacia and patent ductus arteriosus: simultaneous surgical correction in an infant.

Authors:  V Ahel; S Severinski; D Vukas; V Rozmanić
Journal:  Tex Heart Inst J       Date:  1999

3.  Two fetuses with Fryns syndrome without diaphragmatic defects.

Authors:  K K Wilgenbus; R Engers; G Crombach; F Majewski
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.