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Résumé
RÉSUMÉ
L’holoprosencéphalie (HPE) est la malformation cérébrale la plus fréquente. Plusieurs mutations génétiques sont associées à sa survenue. Il est également caractérisé par une hétérogénéité phénotypique sans corrélation avec la génétique. Des causes non génétiques ont été décrites. Nous rapportons dans cet article 6 cas d’HPE diagnostiqués en anténatal essentiellement à l’échographie, mais tardivement. Il s’agissait de cas sporadiques dans les familles concernées, non syndromiques. L’objectif est de reposer le débat de l’étiologie, du diagnostic anténatal dans un pays où l’accès à l’imagerie par résonance magnétique est limité mais aussi du pronostic de cette malformation cérébrale.
ABSTRACT
Holoprosencephaly (HPE) is the most common brain malformation entailing various genetic mutation. It is also characterized by phenotypic heterogeneity. Non-genetic cases have been described. We report in this paper six cases of HPE diagnosed by antenatal ultrasound. These were sporadic cases in different families. The aim is to debate on etiology, antenatal diagnosis in a country with difficult access to Magnetic Resonance Imaging is limited.
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- RÉFÉRENCES
- Lazaro, L., et al., Phenotypic and molecular variability of the holoprosencephalic spectrum. Am. J. Med. Genet., 2004. 129A: p. 21-24.
- Winter, T.C., A.M. Kennedy, and P.J. Woodward, Holoprosencephaly: A Survey of the Entity, with Embryology and Fetal Imaging. Radiographics, 2015. 35: p. 270-290.
- Bullen, P.J., J.M. Rankin, and S.C. Robson, Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England. Am J Obstet Gynecol, 2001. 184(6): p. 1256–1262.
- Orioli, I.M. and E.E. Castilla, Epidemiology of holoprosencephaly: prevalence and risk factors. Am J Med Genet C Semin Med Genet 2010. 154C(1): p. 13–21.
- Odent, S., et al., Segregation analysis in nonsyndromic holoprosencephaly Am. J. Med. Genet, 1998. 77: p. 139-143.
- Mercier, S., C. Dubourg, and M. Belleguic, Genetic counseling and “molecular” prenatal diagnosis of holoprosencephaly (HPE). Am J Med Genet C Semin Med Genet , 2010. 154C(1): p. 191-196.
- Barr, M. and M.M. Cohen, Holoprosencephaly survival and performance. Am J Med Genet 1999. 89(2): p. 116-120.
- Solomon, B.-D., S. Mercier, and J.-I. Vélez, Analysis of genotypephenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet, 2010. 154C(1): p. 133-141.
- Cohen, M.-M. and R.-J. Gorlin, Genetic considerations in a sibship of cyclopia and clefts. . Art. Ser. V(2): 113-118, 1969. Birth Defects Orig, 1969. V(2): p. 113-118.
- Ming, J.-E. and M. Muenke, Multiple hits during early embryonic development: digenic diseases and holoprosencephaly Am. J. Hum. Genet, 2002. 71: p. 1017-1032.
- Vaz, S., et al., Risk factors for nonsyndromic holoprosencephaly: a Manitoba case-control study. Am J Med Genet, 2012. 185A(4): p. 751–758.
- Corsello, G., et al., Holoprosencephaly: examples of clinical variability and etiologic heterogeneity. Am. J. Med. Genet, 1990. 37: p. 244-249.
- Hahn, J.S. and P.D. Barnes, Neuroimaging advances in holoprosencephaly: refining the spectrum of the midline malformation. Am J Med Genet C Semin Med Genet, 2010. 154C: p. 120–132.
- Stashinko, E.E., N.J. Clegg, and H.A. Kammann, A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly. Am J Med Gene, 2004. 128A(2): p. 114–119.
##journal.references##
RÉFÉRENCES
Lazaro, L., et al., Phenotypic and molecular variability of the holoprosencephalic spectrum. Am. J. Med. Genet., 2004. 129A: p. 21-24.
Winter, T.C., A.M. Kennedy, and P.J. Woodward, Holoprosencephaly: A Survey of the Entity, with Embryology and Fetal Imaging. Radiographics, 2015. 35: p. 270-290.
Bullen, P.J., J.M. Rankin, and S.C. Robson, Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England. Am J Obstet Gynecol, 2001. 184(6): p. 1256–1262.
Orioli, I.M. and E.E. Castilla, Epidemiology of holoprosencephaly: prevalence and risk factors. Am J Med Genet C Semin Med Genet 2010. 154C(1): p. 13–21.
Odent, S., et al., Segregation analysis in nonsyndromic holoprosencephaly Am. J. Med. Genet, 1998. 77: p. 139-143.
Mercier, S., C. Dubourg, and M. Belleguic, Genetic counseling and “molecular” prenatal diagnosis of holoprosencephaly (HPE). Am J Med Genet C Semin Med Genet , 2010. 154C(1): p. 191-196.
Barr, M. and M.M. Cohen, Holoprosencephaly survival and performance. Am J Med Genet 1999. 89(2): p. 116-120.
Solomon, B.-D., S. Mercier, and J.-I. Vélez, Analysis of genotypephenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet, 2010. 154C(1): p. 133-141.
Cohen, M.-M. and R.-J. Gorlin, Genetic considerations in a sibship of cyclopia and clefts. . Art. Ser. V(2): 113-118, 1969. Birth Defects Orig, 1969. V(2): p. 113-118.
Ming, J.-E. and M. Muenke, Multiple hits during early embryonic development: digenic diseases and holoprosencephaly Am. J. Hum. Genet, 2002. 71: p. 1017-1032.
Vaz, S., et al., Risk factors for nonsyndromic holoprosencephaly: a Manitoba case-control study. Am J Med Genet, 2012. 185A(4): p. 751–758.
Corsello, G., et al., Holoprosencephaly: examples of clinical variability and etiologic heterogeneity. Am. J. Med. Genet, 1990. 37: p. 244-249.
Hahn, J.S. and P.D. Barnes, Neuroimaging advances in holoprosencephaly: refining the spectrum of the midline malformation. Am J Med Genet C Semin Med Genet, 2010. 154C: p. 120–132.
Stashinko, E.E., N.J. Clegg, and H.A. Kammann, A retrospective survey of perinatal risk factors of 104 living children with holoprosencephaly. Am J Med Gene, 2004. 128A(2): p. 114–119.