Literature DB >> 8418638

Hyperphalangism, facial anomalies, hallux valgus, and bronchomalacia: a new syndrome?

D Chitayat1, S Haj-Chahine, H J Stalker, E M Azouz, A Côté, F Halal.   

Abstract

We report on a boy with hyperphalangism, partial syndactyly, facial anomalies, and diffuse bronchomalacia, born to a nonconsanguineous French-Canadian couple. To our knowledge, this is a hitherto undescribed syndrome.

Entities:  

Mesh：

Year:  1993        PMID： 8418638     DOI： 10.1002/ajmg.1320450103

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


  4 in total

Review 1.  Rescuing lethal phenotypes induced by disruption of genes in mice: a review of novel strategies.

Authors:  N Lipták; Z Gál; B Biró; L Hiripi; O I Hoffmann
Journal:  Physiol Res       Date:  2021-01-14       Impact factor: 1.881

2.  First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.

Authors:  Manal M Thomas; Engy A Ashaat; Ghada A Otaify; Samira Ismail; Mona L Essawi; Mohamed S Abdel-Hamid; Heba A Hassan; Sonia A Alsaiedi; Mona Aglan; Mona O El Ruby; Samia Temtamy
Journal:  Mol Syndromol       Date:  2021-07-22

3.  Radiography of Chitayat syndrome in an infant male.

Authors:  Seong Hwan Shin; Emma StJoseph; Khalid Mannan; Khalid Khan
Journal:  Radiol Case Rep       Date:  2019-01-24

Review 4.  Interstitial Lung Disease in Rare Congenital Syndromes.

Authors:  Aleksandra Jezela-Stanek
Journal:  J Mother Child       Date:  2020-07-29
  4 in total

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