Literature DB >> 8291548

Holoprosencephaly and primary craniosynostosis: the Genoa syndrome.

G Camera1, M Lituania, M M Cohen.   

Abstract

We report on 2 sibs with holoprosencephaly of the semilobar type, unusual facial appearance not diagnostic of holoprosencephaly, and primary craniosynotosis involving the coronal and lambdoid sutures. The condition represents a newly recognized syndrome, possibly having autosomal recessive inheritance.

Entities:  

Mesh：

Year:  1993        PMID： 8291548     DOI： 10.1002/ajmg.1320470806

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


  5 in total

1.  Syndromes associated with holoprosencephaly.

Authors:  Paul Kruszka; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2018-05-17       Impact factor: 3.908

Review 2.  Holoprosencephaly and craniosynostosis: A report of two siblings and review of the literature.

Authors:  Manu S Raam; Benjamin D Solomon; Stavit A Shalev; Maximilian Muenke
Journal:  Am J Med Genet C Semin Med Genet       Date:  2010-02-15       Impact factor: 3.908

3.  Genoa syndrome and central diabetes insipidus: a case report.

Authors:  Bülent Hacıhamdioğlu; Zeynep Şıklar; Şenay Savaş Erdeve; Merih Berberoğlu; Gülhiz Deda; Serap Teber Tıraş; Suat Fitöz; Gönül Öcal
Journal:  J Clin Res Pediatr Endocrinol       Date:  2010-05-08

4.  Semilobar holoprosencephaly in a 12-month-old baby boy born to a primigravida patient with type 1 diabetes mellitus: a case report.

Authors:  Pedro Pallangyo; Frederick Lyimo; Paulina Nicholaus; Hilda Makungu; Maria Mtolera; Isaac Mawenya
Journal:  J Med Case Rep       Date:  2016-12-20

5.  Holoprosencephaly.

Authors:  Ameer Hamza; Martha Jaye Higgins
Journal:  Autops Case Rep       Date:  2017-12-08
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.