PMID: 9832039Dec 1, 1998Paper

Classical lissencephaly syndromes: does the face reflect the brain?

Journal of Medical Genetics
Judith AllansonW B Dobyns

Abstract

Both Miller-Dieker syndrome and isolated lissencephaly sequence are associated with classical lissencephaly. Both have been shown to be associated with deletions and mutations in LIS1 on 17p. Traditionally, the two disorders have been distinguished by the presence of a characteristic facial appearance in Miller-Dieker syndrome. The forehead is tall and prominent and may have vertical furrowing. There is narrowing at the temples. Eyes are widely spaced with upward slanting fissures. The nose is very short with anteverted nares. The upper lip is long, wide, and thick. The ears may have minor flattening of the helices. By contrast, these features are not seen in isolated lissencephaly sequence. We have measured five children with Miller-Dieker syndrome (MDS) and 25 children and adolescents with isolated lissencephaly sequence (ILS). Z score (standard deviation score) pattern profiles have been formulated and compared. Patients with ILS at all ages show reduced head circumference, a round head, and a wide and flat face with a broad nose and widely spaced eyes. The most unexpected finding is the similarity of pattern profiles of ILS and MDS in the age group 6 months to 4 years. Correlation coefficient is 0.812 (p<0.001). In MDS ther...Continue Reading

References

Jul 1, 1992·Neurology·W B DobynsD H Ledbetter
Feb 1, 1985·AJR. American Journal of Roentgenology·S M GarnB H Smith
Jun 1, 1995·Neuropediatrics·W B Dobyns, C L Truwit
Dec 15, 1993·JAMA : the Journal of the American Medical Association·W B DobynsD H Ledbetter
Aug 1, 1996·Neurology·W B DobynsC L Truwit

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Citations

Aug 17, 2001·Trends in Neurosciences·R J LeventerW B Dobyns
May 2, 2000·Pediatric Neurology·Y YilmazO Minareci
Mar 28, 2013·American Journal of Medical Genetics. Part a·Seth M WeinbergPeg Nopoulos
Dec 27, 2005·Brain & Development·Claudio CelentanoMarco Liberati
Nov 5, 2003·Journal of Neurobiology·Stephanie L Bielas, Joseph G Gleeson
Apr 2, 2008·Journal of Perinatology : Official Journal of the California Perinatal Association·T E Herman, M J Siegel
May 7, 2002·American Journal of Medical Genetics·Elizabeth S MooreBryan D Hall
Aug 19, 2005·Molecular and Cellular Biology·Shinji SasakiShinji Hirotsune
Aug 31, 2002·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Felicitas L Lacbawan, Maximilian Muenke
Aug 15, 2002·Veterinary Radiology & Ultrasound : the Official Journal of the American College of Veterinary Radiology and the International Veterinary Radiology Association·Miyoko SaitoDonald E Thrall

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