Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases
- PMID: 7856652
- DOI: 10.1002/ajmg.1320530202
Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases
Abstract
In recent years, several patients with microcephaly, lymphedema and chorioretinal dysplasia have been described. We have studied two additional patients with similar findings. The question of whether microcephaly with lymphedema and microcephaly with chorioretinal dysplasia and lymphedema are distinct entities remains unanswered. Identification of other patients in the future may provide additional information.
Comment in
-
Microcephaly/lymphedema and terminal deletion of the long arm of chromosome 13.Am J Med Genet. 1995 Jul 3;57(3):504. doi: 10.1002/ajmg.1320570332. Am J Med Genet. 1995. PMID: 7545871 No abstract available.
Similar articles
-
[Ophthalmological findings in microcephaly-lymphoedema-chorioretinal dysplasia syndrome].Klin Monbl Augenheilkd. 2009 Apr;226(4):344-6. doi: 10.1055/s-0028-1109313. Epub 2009 Apr 21. Klin Monbl Augenheilkd. 2009. PMID: 19384796 German.
-
Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.Am J Med Genet. 1999 Sep 17;86(3):215-8. Am J Med Genet. 1999. PMID: 10482868
-
Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia.Ophthalmic Genet. 2010 Jun;31(2):89-93. doi: 10.3109/13816811003620509. Ophthalmic Genet. 2010. PMID: 20450312
-
Microcephaly, lymphedema, chorioretinal dysplasia (MLCRD) syndrome.J Pediatr Health Care. 2012 Jul-Aug;26(4):306-11. doi: 10.1016/j.pedhc.2011.08.002. Epub 2011 Oct 8. J Pediatr Health Care. 2012. PMID: 22726716 Review. No abstract available.
-
Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature.Ophthalmic Genet. 2009 Dec;30(4):157-60. doi: 10.3109/13816810903147980. Ophthalmic Genet. 2009. PMID: 19852571 Review.
Cited by
-
A Novel Mutation of KIF11 in a Child with 22q11.2 Deletion Syndrome Associated with MCLMR.Mol Syndromol. 2019 Jan;9(5):266-270. doi: 10.1159/000491568. Epub 2018 Jul 20. Mol Syndromol. 2019. PMID: 30733662 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical