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Neuropediatrics 2000; 31(4): 218-221
DOI: 10.1055/s-2000-7463
DOI: 10.1055/s-2000-7463
Short Communication
Georg Thieme Verlag Stuttgart · New York
Polymicrogyria and Motor Neuropathy in Micro Syndrome
Weitere Informationen
Publikationsverlauf
Publikationsdatum:
31. Dezember 2000 (online)

Micro syndrome is a rare condition in which congenital cataracts, microphthalmia, and facial dysmorphism are associated with severe neurological disorders, namely: microcephaly and psychomotor retardation. We report on polymicrogyria and motor neuropathy in a patient with Micro syndrome. These findings provide new insights into developmental defects underlying motor and mental disabilities.
Key words
Cataract - Microcephaly - Microphthalmia - Gyral abnormalities
References
- 1 Casteels I, Wijnants A, Casaer P, Eggermont E, Misotten L, Fryns J P. Cerebro-oculo-facio-skeletal (COFS) syndrome: the variability of presenting symptoms as a manifestation of two subtypes?. Gen Couns. 1991; 2 43-46
- 2 Del Bigio M R, Greenberg C R, Rorke L B, Schnur R, McDonald-McGinn D M, Zackai E H. Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome. J Neuropathol Exp Neurol. 1997; 56 1147-1157
- 3 Jones K L. Smith's Recognizable Patterns of Human Malformations. 5th ed. Philadelphia; WB Saunders 1995
- 4 Mégarbamé A, Choueiri R, Bleik J, Mezzina M, Caillaud C. Microcephaly, microphthalmia, congenital cataract, optic atrophy, short stature, hypotonia, severe psychomotor retardation, and cerebral malformations: a second family with micro syndrome or a new syndrome?. J Med Genet. 1999; 36 637-640
- 5 Online Mendelian Inheritance in Man, OMIM (TM) .McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/. 2000
- 6 Norman M G, McGillivray B C, Kalousek D K, Hill A, Paskitt K J. Congenital Malformations of the Brain: Pathological, Embryological, Clinical, Radiological and Genetic Aspects. New York; Oxford University Press 1995
- 7 Rodriguez Criado G, Rufo M, Gomez de Terreros I. A second family with Micro syndrome. Clin Dysmorphol. 1999; 8 241-245
- 8 Sakai T, Kikuchi F, Takashima S, Matsuda H, Watanabe N. Neuropathological findings in the cerebro-oculo-facio-skeletal (Peña-Shokeir II) syndrome. Brain Dev. 1997; 19 58-62
- 9 Slavotinek A M, Pike M, Mills K, Hurst J A. Cataract, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome?. Am J Med Genet. 1996; 62 42-47
- 10 Warburg M, Sjö O, Fledelius H C, Pedersen S A. Autosomal recessive microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism: Micro syndrome. Am J Dis Child. 1993; 147 1309-1312
M. D., Ph. D. Marie-Cécile Nassogne
Service de Neurologie Pédiatrique Cliniques Universitaires Saint-Luc
Avenue Hippocrate 10/1062
1200 Bruxelles
Belgium
eMail: E-mail: nassogne@cell.ucl.ac.be