Acrocallosal syndrome in fetus: Focus on additional brain abnormalities

Acta Neuropathologica

Volumn 115, Issue 1, 2008, Pages 151-156

  Fernandez, Carla ^a   Soulier, Marie ^a   Coulibaly, Béma ^a   Liprandi, Agnès ^a   Benoit, Bernard ^b   Giuliano, Fabienne ^b   Sigaudy, Sabine ^a   Figarella Branger, Dominique ^a   Fallet Bianco, Catherine ^c  

^a TIMONE HOSPITAL   (France)

^b CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^c CENTRE HOSPITALIER SAINTE ANNE   (France)

Author keywords

Acrocallosal syndrome; Corpus callosum; Fetus; Greig cephalopolysyndactyly syndrome; Heterotopia

Indexed keywords

ACROCALLOSAL SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN CORTEX; BRAIN DISEASE; CASE REPORT; CEREBELLUM; CHOROID PLEXUS; CORPUS CALLOSUM; CRANIOFACIAL MALFORMATION; DENTATE NUCLEUS; FETUS; GESTATIONAL AGE; HUMAN; HUMAN TISSUE; HYPOPLASIA; LIMB MALFORMATION; MALE; MICROSCOPY; NEUROPATHOLOGY; POLYDACTYLY; PONS; PRIORITY JOURNAL; SYNDACTYLY; WHITE MATTER;

ABNORMALITIES, MULTIPLE; BRAIN; CONGENITAL ABNORMALITIES; CRANIOFACIAL ABNORMALITIES; FEMALE; FETUS; FINGERS; HUMANS; MALE; POLYDACTYLY; SYNDACTYLY;

EID: 36949006290     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-007-0249-y     Document Type: Article

References (24)

1. Brueton LA, Chotai KA, van Herwerden L, Schinzel A, Winter RM (1992) The acrocallosal syndrome and Greig syndrome are not allelic disorders. J Med Genet 29:635-637
2. Casamassima AC, Beneck D, Gewitz MH, Horowitz MA, Woolf PK, Pettersen IM, Shapiro LR (1989) Acrocallosal syndrome: Additional manifestations. Am J Med Genet 32:311-317
3. Chiang C, Litingtung Y, Lee E, Young KE, Corden JL, Westphal H, Beachy PA (1996) Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature 383:407-413
4. Christianson AL, Venter PA, Du Toit JL, Shipalana N, Gericke GS (1994) Acrocallosal syndrome in two African brothers born to consanguineous parents. Am J Med Genet 51:98-101
5. Courtens W, Vamos E, Christophe C, Schinzel A (1997) Acrocallosal syndrome in an Algerian boy born to consanguineous parents: Review of the literature and further delineation of the syndrome. Am J Med Genet 69:17-22
6. Dahmane N, Sanchez P, Gitton Y, Palma V, Sun T, Beyna M, Weiner H, Ruiz i Altaba A (2001) The Sonic Hedgehog-Gli pathway regulates dorsal brain growth and tumorigenesis. Development 128:5201-5212
7. Docherty Z, Seller MJ (1993) Acrocallosal syndrome and 12p. Ann Genet 36:136
8. Elson E, Perveen R, Donnai D, Wall S, Black GC (2002) De novo GLI3 mutation in acrocallosal syndrome: Broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J Med Genet 39:804-806
9. Gelman-Kohan Z, Antonelli J, Ankori-Cohen H, Adar H, Chemke J (1991) Further delineation of the acrocallosal syndrome. Eur J Pediatr 150:797-799
10. Hendriks HJ, Brunner HG, Haagen TA, Hamel BC (1990) Acrocallosal syndrome. Am J Med Genet 35:443-446
11. Hui CC, Joyner AL (1993) A mouse model of greig cephalopolysyndactyly syndrome: The extra-toesJ mutation contains an intragenic deletion of the Gli3 gene. Nat Genet 3:241-246
12. Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG (2003) Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet A 123:236-242
13. Kalff-Suske M, Wild A, Topp J, Wessling M, Jacobsen EM, Bornholdt D, Engel H, Heuer H, Aalfs CM, Ausems MG, Barone R, Herzog A, Heutink P, Homfray T, Gillessen-Kaesbach G, Konig R, Kunze J, Meinecke P, Muller D, Rizzo R, Strenge S, Superti-Furga A, Grzeschik KH (1999) Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum Mol Genet 8:1769-1777
14. Koenig R, Bach A, Woelki U, Grzeschik KH, Fuchs S (2002) Spectrum of the acrocallosal syndrome. Am J Med Genet 108:7-11
15. Pfeiffer RA, Legat G, Trautmann U (1992) Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3. Ann Genet 35:41-46
16. Rauch A, Trautmann U, Pfeiffer RA (1996) Clinical and molecular cytogenetic observations in three cases of "trisomy 12p syndrome. Am J Med Genet 63:243-249
17. Ruiz i Altaba A (1999) Gli proteins encode context-dependent positive and negative functions: Implications for development and disease. Development 126:3205-3216
18. Schinzel A (1988) The acrocallosal syndrome in first cousins: Widening of the spectrum of clinical features and further support for autosomal recessive inheritance. J Med Genet 25:332-336
19. Schinzel A (1982) Four patients including two sisters with the acrocallosal syndrome (agenesis of the corpus callosum in combination with preaxial hexadactyly). Hum Genet 62:382
20. Schinzel A (1979) Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: A new syndrome? Helv Paediatr Acta 34:141-146
21. Schinzel A, Kaufmann U (1986) The acrocallosal syndrome in sisters. Clin Genet 30:399-405
22. Sueldo G, Fernandes MC (1993) Fronto-nasal dysostosis, callosal agenesis, crossed-fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: Severe expression of the acrocallosal syndrome? Am J Med Genet 46:355-357
23. Thyen U, Aksu F, Bartsch O, Herb E (1992) Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. Neuropediatrics 23:292-296
24. Vortkamp A, Franz T, Gessler M, Grzeschik KH (1992) Deletion of GLI3 supports the homology of the human Greig cephalopolysyndactyly syndrome (GCPS) and the mouse mutant extra toes (Xt). Mamm Genome 3:461-463