Literature DB >> 2240039

Craniosynostosis and lid anomalies: report of a girl with Michels syndrome.

C Cunniff1, K L Jones.   

Abstract

We report on a 2-year-old girl with Michels syndrome, a condition characterized by mental deficiency, craniosynostosis, blepharophimosis, ptosis, and epicanthus inversus. The phenotypic findings are compared with those of previously reported cases.

Entities:  

Mesh：

Year:  1990        PMID： 2240039     DOI： 10.1002/ajmg.1320370108

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


  2 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
  2 in total

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