The spectrum of type III lissencephaly: A clinicopathological update

Fetal and Pediatric Pathology

Volumn 23, Issue 5-6, 2004, Pages 305-317

  Allias, Fabienne ^a   Buenerd, Annie ^b   Bouvier, Raymonde ^b   Attia Sobol, Jocelyne ^c   Dijoud, Frédérique ^d   Clémenson, Alixe ^e   Encha Razavi, Férechté ^f  

^a CROIX ROUSSE HOSPITAL   (France)

^b EDOUARD HERRIOT HOSPITAL   (France)

^c HÔTEL DIEU   (France)

^d HÔPITAL DEBROUSSE   (France)

^e Service d'Anatomie Pathologique   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Fetal akinesia; Lissencephaly; Neu Laxova syndrome

Indexed keywords

AGYRIA; AKINESIA; CLINICAL FEATURE; DEGENERATIVE DISEASE; DIFFERENTIAL DIAGNOSIS; FAMILIAL DISEASE; FAMILY STUDY; FETUS MALFORMATION; GENETIC HETEROGENEITY; HISTOPATHOLOGY; HUMAN; MALFORMATION SYNDROME; MICROCEPHALY; MOLECULAR GENETICS; NEU LAXOVA SYNDROME; NEUROPATHOLOGY; PRIORITY JOURNAL; REVIEW; SYNDROME DELINEATION;

ABNORMALITIES, MULTIPLE; ADULT; APOPTOSIS; ARTHROGRYPOSIS; BRAIN; CRANIOFACIAL ABNORMALITIES; FEMALE; FETAL GROWTH RETARDATION; GESTATIONAL AGE; HUMANS; KARYOTYPING; MACROPHAGES; MALE; NERVOUS SYSTEM MALFORMATIONS; NEURODEGENERATIVE DISEASES; NEURONS; PHENOTYPE; POLYHYDRAMNIOS; PREGNANCY; RETROSPECTIVE STUDIES; SYNDROME; TIME FACTORS; ULTRASONOGRAPHY, PRENATAL; X-RAYS;

EID: 21044444926     PISSN: 15513815     EISSN: None     Source Type: Journal    
DOI: 10.1080/15227950490952488     Document Type: Review

References (28)

1. Kato M, Dobyns W. Lissencephaly and the molecular basis of neuronal migration. Hum Mol Genet 2003;1:R89-96.
2. Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002;71:1033-1043.
3. Michele D, Barresi R, Kanagawa M, et al. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 2002; 25:417-422.
4. Moore S, Saito F, Chen J, et al. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 2002;25:422-425.
5. Encha-Razavi F, Larroche J, Roume J, Gonzales M, Kondo HC, Mulliez N. Lethal familial fetal akinesia sequence (FAS) with distinct neuropathological pattern: type III lissencephaly syndrome. Am J Med Genet 1996;62:16-22.
6. Fitch N, Resch L, Rochon L. The Neu-Laxova syndrome: comments on syndrome identification. Am J Med Genet 1982;13:445-452.
7. Ejeckam G, Wadhwa J, Williams J, Lacson AS. Neu-Laxova syndrome: report of two cases. Pediatr Pathol 1986;5:295-306.
8. Ostrovskaya T, Lazjuk G. Cerebral abnormalities in the Neu-Laxova syndrome. Am J Med Genet 1988;30:747-756.
9. Norman M, Hill A, Kalousek DK, Poskitt K, McGillvray B. Neuronal migration disorders. In: Congenital Malformations of the Brain. Oxford: Oxford University Press, 1995; 223-277.
10. Attia-Sobol J, Encha-Razavi F, Hermier M, Vitrey D, Verloes A, Plauchu H. Lissencephaly type III, slipped epiphyses and loose, thick skin: a new recessively inherited syndrome. Am J Med Genet 2001;99:14-20.
11. Encha-Razavi F. Identification of brain malformations: neuropathological approach. Childs Nerv Syst 2003;19:448-454.
12. Guilhard-Costa A, Larroche J, Droulle P, Narcy F. Fetal biometry. Growth charts for practical use in fetopathology and antenatal ultrasonography. Introduction. Fetal Diagn Ther 1995;10:211-278.
13. Moessinger A. Fetal akinesia sequence: an animal model. Pediatrics 1983;47:610-612.
14. Neu R, Kajii T, Gardner L, Nagyfy S F, King S. A lethal syndrome of microcephaly with multiple congenital anomalies in three siblings. Pediatrics 1971;47:610-612.
15. Laxova R, Ohara P, Timothy J. A further example of a lethal autosomal recessive condition in sibs. J Ment Defic Res 1972;16:139-143.
16. Manning MA, Cunniff CM, Colby CE, El-Sayed YY, Hoyme HE: Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review. Am J Med Genet A 2004;125:240-249.
17. Norman M, White V, Dimmick J. Pathology of Neu-Laxova syndrome. Brain Pathol 1994;4:394.
18. Hickey P, Piantanida E, Lentz-Kapua S, Kenner J. Neu-Laxova: a case report. Pediatr Dermatol 2003;20:25-27.
19. Tolmie J, Mortimer G, Doyle D, Mc Kenzie R, Mc Laurin J, Neilson JP. The Neu-Laxova syndrome in female sibs: clinical and pathological features with prenatal diagnosis in the second sib. Am J Med Genet 1987;27:175-182.
20. Russo R, D'Armiento M, Martinelli P, Ventruto V. Neu-Laxova syndrome: pathological, radiological and prenatal findings in a stillborn female. Am J Med Genet 1989;32:136-139.
21. Motoyama N, Wang F, Roth K, et al. Massive cell death of immature hematopoietic cells and neurons in Bcl-x-deficient mice. Science 1995;267:1506-1510.
22. Roth K, Motoyamma N, Loh D. Apoptosis of bcl-x-deficient telencephalic cells in vitro. J Neurosci 1996;16:1753-1758.
23. Del Bigio M, Greenberg C, Rorke L, Schnur R, McDonald-McGinn DM, Zackai EH. Neuropathological findings in eight children with cerebro-oculo-facio- skeletal (COFS) syndrome. J Neuropathol Exp Neurol 1997;56:1147-1157.
24. Barth P. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. Brain Dev 1993;15:411-422.
25. Barth P. Pontocerebellar atrophy - how many types? Eur J Paediatr Neurol 2000;4:161-162.
26. Larsen WJ, Scott W, Scherman LS, Potter SS. Development of the brain and cranial nerves. In Human Embryology. New York: Churchill Livingston, 2001; 411-454.
27. Holzbach U, Hanefeld F, Helms G, Hanicke N, Frahm J. Localized proton magnetic resonance spectroscopy of cerebral abnormalities in children with carbohydrate-deficient glycoprotein syndrome. Acta Paedriatr 1995;84:781-786.
28. Kjaergaard S, Schwartz M, Skoby F. Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype. Arch Dis Child 2001;85:236-239.