Literature DB >> 1415329

Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?

M Feingold1, L Bartoshesky.   

Abstract

We report on 2 unrelated patients with microcephaly, lymphedema, and chorioretinal changes. They are compared with previously reported patients with microcephaly and lymphedema and microcephaly with chorioretinal changes. The question is raised whether all of these patients represent one entity or are separate syndromes. Until more data are available we propose that our patients represent a single entity.

Entities:  

Mesh：

Year:  1992        PMID： 1415329     DOI： 10.1002/ajmg.1320430623

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


  7 in total

1.  Congenital toxoplasmosis mimicking microcephaly-lymphedema-chorioretinal dysplasia.

Authors:  Yoshinori Ozeki; Yoshiaki Shimada; Atsuhiro Tanikawa; Masayuki Horiguchi; Masatomo Takeuchi; Toshio Yamazaki
Journal:  Jpn J Ophthalmol       Date:  2010-12-30       Impact factor: 2.447

2.  A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR.

Authors:  Nilay Güneş; Emre Taşdemir; Heather Jeffery; Hüseyin Yetik; Pia Ostergaard; Beyhan Tüysüz
Journal:  Mol Syndromol       Date:  2018-07-20

Review 3.  Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.

Authors:  Ghayda M Mirzaa; Laura Enyedi; Gretchen Parsons; Sarah Collins; Livija Medne; Carissa Adams; Thomas Ward; Bradley Davitt; Alma Bicknese; Elaine Zackai; Helga Toriello; William B Dobyns; Susan Christian
Journal:  Am J Med Genet A       Date:  2014-08-12       Impact factor: 2.802

4.  Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

Authors:  Alexandre Irrthum; Koenraad Devriendt; David Chitayat; Gert Matthijs; Conrad Glade; Peter M Steijlen; Jean-Pierre Fryns; Maurice A M Van Steensel; Miikka Vikkula
Journal:  Am J Hum Genet       Date:  2003-05-08       Impact factor: 11.025

5.  The swollen leg and primary lymphoedema.

Authors:  N B Wright; H M Carty
Journal:  Arch Dis Child       Date:  1994-07       Impact factor: 3.791

6.  Retinal and optic nerve changes in microcephaly: An optical coherence tomography study.

Authors:  Eleni Papageorgiou; Anastasia Pilat; Frank Proudlock; Helena Lee; Ravi Purohit; Viral Sheth; Pradeep Vasudevan; Irene Gottlob
Journal:  Neurology       Date:  2018-07-11       Impact factor: 9.910

7.  Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.

Authors:  Gabriela E Jones; Pia Ostergaard; Anthony T Moore; Fiona C Connell; Denise Williams; Oliver Quarrell; Angela F Brady; Isabel Spier; Filiz Hazan; Oana Moldovan; Dagmar Wieczorek; Barbara Mikat; Florence Petit; Christine Coubes; Robert A Saul; Glen Brice; Kristiana Gordon; Steve Jeffery; Peter S Mortimer; Pradeep C Vasudevan; Sahar Mansour
Journal:  Eur J Hum Genet       Date:  2013-11-27       Impact factor: 4.246
  7 in total

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