118
Views
5
CrossRef citations to date
0
Altmetric
Original Article

Microcephaly with chorioretinal dysplasia: Two case reports and a review of the literature

, , , , , & show all
Pages 157-160 | Received 16 Feb 2009, Accepted 16 Jun 2009, Published online: 23 Oct 2009

REFERENCES

  • Baraitser M, Winter R. London Dysmorphology Database Version 3.0. 2004.
  • Casteels I, Devriendt K. Autosomal dominant microcephaly-lympoedema-chorioretinal dysplasia syndrome. Br J Ophthalmol. 2001;85(4):499–500.
  • Mirhosseini SA, Holmes LB, Walton DS. Syndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation. J Med Genet. 1972;9:193–196.
  • McKusick VA, Stauffer M, Knox DL, Clark DB. Chorioretinopathy with hereditary microcephaly. Arch Ophthalmol. 1966;75:597–600.
  • Trzupek KM, Falk RE, Demer JL, Weleber RG. Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype. Am J Med Genet A. 2007;143A(11):1218–1222.
  • Hordijk R, Van de Logt F, Houtman WA, Van Essen AJ. Chorioretinal dysplasiamicrocephaly-mental retardation syndrome: another family with autosomal dominant inheritance. Genet Couns. 1996;7(2):113–22.
  • Vasudevan PC, Garcia-Minaur S, Botella MP, Perez-Aytes A, Shannon NL, Quarrell OW. Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature. Clin Dysmorphol. 2005 Jul;14(3):109–116.
  • Limwongse C, Wyszynski RE, Dickerman LH et al. Microcephaly-lymphoedemachorioretinal: a unique genetic syndrome with variable expression and possible characteristic facial appearance. Am J Med Genet. 1999 Sep 17;86(3):215–218.
  • Atchaneeyasakul LO, Linck L, Weleber RG. Microcephaly with chorioretinal degeneration. Ophthalmic Genet. 1998 Mar;19(1):39–48.
  • Simonell F, Testa F, Nesti A, de Crecchio G, Bifani M, Cavaliere ML, Rinaldi E, Rinaldi MM. An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration. J Pediatr Ophthalmol Strabismus. 2002 Sep-Oct;39(5):288–292.
  • Tenconi R, Clementi M, Moschini GB, Casara G, Baccichetti C. Chorio-retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome. Clin Genet. 1981 Nov;20(5):347–351.
  • van Genderen M, Schuil J, Meire FM. Microcephaly with chorioretinopathy. A report of two dominant families and three sporadic cases. Ophthalmic Genet. 1997 Dec;18(4):199–207.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.