Literature DB >> 7677137

Michels syndrome in a Brazilian girl born to consanguineous parents.

M L Guion-Almeida1, E S Rodini.   

Abstract

We report on a Brazilian girl born to consanguineous parents and presenting with craniosynostosis, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, cleft lip and palate, skeletal defects, and hearing loss. This combination of anomalies appears to constitute the Michels syndrome.

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Mesh：

Year:  1995        PMID： 7677137     DOI： 10.1002/ajmg.1320570302

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


  3 in total

1.  MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes.

Authors:  Asli Sirmaci; Tom Walsh; Hatice Akay; Michail Spiliopoulos; Yıldırım Bayezit Sakalar; Aylin Hasanefendioğlu-Bayrak; Duygu Duman; Amjad Farooq; Mary-Claire King; Mustafa Tekin
Journal:  Am J Hum Genet       Date:  2010-10-28       Impact factor: 11.025

Review 2.  Michels syndrome: the first case report from India and review of literature.

Authors:  Adedayo A Adio; Ramesh Kekunnaya; Lokesh Lingappa
Journal:  Indian J Ophthalmol       Date:  2014-09       Impact factor: 1.848

3.  Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome.

Authors:  Tahir Atik; Asuman Koparir; Guney Bademci; Joseph Foster; Umut Altunoglu; Gül Yesiltepe Mutlu; Sarah Bowdin; Nursel Elcioglu; Gulsen A Tayfun; Sevinc Sahin Atik; Mustafa Ozen; Ferda Ozkinay; Yasemin Alanay; Hulya Kayserili; Steffen Thiel; Mustafa Tekin
Journal:  Orphanet J Rare Dis       Date:  2015-09-30       Impact factor: 4.123
  3 in total

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