Skip to main content
SpringerLink
Log in

Microcephaly and Chorioretinopathy With or Without Mental Retardation and Lymphedema

  • Chapter
  • First Online:
Inherited Chorioretinal Dystrophies

  • 1632 Accesses

Abstract

Victor McKusick [9] described the first association of microcephaly and chorioretinal dysplasia in 8 patients from 2 American consanguineous sibships originating from South Germany. The disease is characterised by microcephaly without cerebral malformation, a mild mental retardation and lacunar, more or less pigmented chorioretinal lesions or chorioretinal dysplasia.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 139.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 199.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Abdel-Salam GMH, Czeizel AE, Vogt G, Imre L. Microcephaly with chorioretinal dysplasia: characteristic facial features. Am J Med Genet (Lett). 2000;95:513–5.

    Article  CAS  Google Scholar 

  2. Alzial C, Dufier JL, Brasnu C, Aicardi J, de Grouchy J. Microcephalie ‘vraie’ avec dysplasie chorio-rétinienne a hérédité dominante. Ann Genet. 1980;23:91–4.

    CAS  PubMed  Google Scholar 

  3. Blondeau A. Microcéphalie et lacunes choriorétiniennes. Thèse Lille II; 1994.

    Google Scholar 

  4. Cantu JM, Rojas JA, Garcia-Cruz D, Hernandez A, Pagan P, Fragoso R, Manzano C. Autosomal recessive microcephaly associated with chorioretinopathy. Hum Genet. 1977;36:243–7.

    Article  CAS  PubMed  Google Scholar 

  5. Cordier J, Tridon P, Raspiller A, Stehlin B. Microcéphalies génétiques et dysplasies chorio-rétiniennes dans une même fratrie. Bull Soc Ophtalmol Fr. 1975;75:473–77.

    CAS  PubMed  Google Scholar 

  6. Feingold M, Bartoshesky L. Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome? Am J Med Genet. 1992;43:1030–1.

    Article  CAS  PubMed  Google Scholar 

  7. Horn D, Krebsova A, Kunze J, Reis A. Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity. Am J Med Genet. 2000;92:285–92.

    Article  CAS  PubMed  Google Scholar 

  8. Koch G. Genealogisch-demographische Untersuchungen ueber Mikrocephalie in Westfalen. Forschungsberichte des Landes Nordrhein-Westfalen, No. 1963 (pub.) 1968. p. 99 only.

    Google Scholar 

  9. McKusick VA, Stauffer M, Knox DL, Clark DB. Chorioretinopathy with hereditary microcephaly. Arch Ophthal. 1966;75:597–600.

    Article  CAS  PubMed  Google Scholar 

  10. Manning FJ, Bruce AM, Berson EL. Electroretinograms in microcephaly with chorioretinal degeneration. Am J Ophthalmol. 1990;109:457–63.

    Article  CAS  PubMed  Google Scholar 

  11. Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, et al. Mutations in KIF1 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet. 2012;90:356–62.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  12. Parke JT, Riccardi VM, Lewis RA, Ferrell RE. A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia. Am J Med Genet. 1984;17:585–94.

    Article  CAS  PubMed  Google Scholar 

  13. Puffenberger EG, Jinks RN, Sougnez C, Cibulskis K, Willert RA, Achilly NP, Cassidy RP, Fiorentini CJ, Heiken KF, Lawrence JJ, Mahoney MH, Miller CJ, et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One. 2012;7:e28936.

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  14. Saudax E, Raspiller A, Trido P, Georges JL, Hachet E. Dégénérescence choriorétinienne et microcéphalie primitive familiale. Bull Mém Soc Fr Ophtal. 1986;97:247–52.

    CAS  Google Scholar 

  15. Schmidt B, Jaeger W, Neubauer H. Ein Mikrozephalie-Syndrom mit atypischer tapetoretinaler Degeneration bei 3 Geschwistern. Klin Monatsbl Augenheilkd. 1968;150:188–96.

    Google Scholar 

  16. Tenconi R, Clementi M, Battista Moschini G, Casara G, Baccichetti C. Chorio-retinal dysplasia, microcephaly and mental retardation: an autosomal dominant syndrome. Clin Genet. 1981;20:347–51.

    Article  CAS  PubMed  Google Scholar 

  17. Van Genderen MM, Schuil J, Meire FM. Microcephaly with chorioretinopathy. A report of two dominant families and tree sporadic cases. Ophtalmic Genet. 1997;18:199–207.

    Article  Google Scholar 

  18. Warburg M, Heuer HE. Chorioretinal dysplasia-microcephaly-mental retardation syndrome. Am J Med Genet (Lett). 1994;52:117.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Service d’Exploration de la Vision et Neuro-ophtalmologie, Centre Hospitalier Universitaire de Lille, Hôpital Roger Salengro, Lille Cedex, 59037, France

    Bernard Puech

Authors
  1. Bernard Puech
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Bernard Puech .

Editor information

Editors and Affiliations

  1. Service d’Exploration de la Vision et Neuro-ophtalmologie, Centre Hospitalier Universitaire de Lille, Hôpital Roger Salengro, Lille Cedex, France

    Bernard Puech

  2. Department of Ophthalmology, Ghent University Hospital, Ghent University, Ghent, Belgium

    Jean-Jacques De Laey

  3. Department of Electrophysiology, Moorfields Eye Hospital, London, United Kingdom

    Graham E. Holder

Rights and permissions

Reprints and permissions

Copyright information

© 2014 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Puech, B. (2014). Microcephaly and Chorioretinopathy With or Without Mental Retardation and Lymphedema. In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_51

Download citation

  • DOI: https://doi.org/10.1007/978-3-540-69466-3_51

  • Published:

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-69464-9

  • Online ISBN: 978-3-540-69466-3

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation