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Abstract
ABSTRACT
Holoprosencephaly is a brain malformation resulting from a defect of median cleavage the embryonic brain; it is often associated with facial abnormalities. In this paper, the authors report the morphological aspects of a case of semi lobar holoprosencephaly without associated facial abnormalities that was discovered at second trimester obstetrical ultrasound. Karyotype and genetic explorations were normal.
RÉSUMÉ
L’holoprosencéphalie est une malformation cérébrale résultant d’un défaut de clivage médian du cerveau embryonnaire, souvent associée à des anomalies faciales.
A partir d’un cas, les auteurs rapportent les aspects à l’imagerie d’une holoprosencéphalie semi lobaire découverte à l’échographie du deuxième trimestre, sans anomalies faciales associées. Les explorations caryotypiques et génétiques sont revenues normales. Ils rappellent l’intérêt des explorations d’imagerie médicale dans le dépistage de cette affection.
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References
- Barr M, Hanson JW, Currey K, Sharp S, Toriello H, Schmickel RD, et al. Holoprosencephaly in infants of diabetic mothers. J Pediatr. 1983;102(4):565–8.
- DeMyer W, Zeman W, Palmer CG. The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics. 1964;34(2):256–63.
- Yakovlev PI. PATHOARCHITECTONIC STUDIES OF CEREBRAL MALFORMATIONS: III. ARRHINENCEPHALIES (HOLO℡ENCEPHALIES). J Neuropathol Exp Neurol. 1959;18(1):22–55.
- Hong N-S, Su C-J, Kuo T-N, Tsai H-C, Lin MY-S, Loo T-C, et al. Early prenatal diagnosis of semilobar holoprosencephaly combined with a dorsal cyst and no facial defect. Taiwan J Obstet Gynecol. 2008;47(4):438–40.
- Lahmar-Boufaroua A, Yacoubi MT, Mellouki S, Mokni M, Korbi S. [Holoprosencephaly: foetopathologic study of 15 cases]. Tunis Med. 2008;86(9):816–20.
- Ming P-ML, Goodner DM, Park TS. Cytogenetic variants in holoprosencephaly: report of a case and review of the literature. Am J Dis Child. 1976;130(8):864–7.
- Lim AS, Lim TH, Kee SK, Chia P, Raman S, Eu EL, et al. Holoprosencephaly: an antenally-diagnosed case series and subject review. Ann Acad Med Singap. 2008;37(7):594.
References
Barr M, Hanson JW, Currey K, Sharp S, Toriello H, Schmickel RD, et al. Holoprosencephaly in infants of diabetic mothers. J Pediatr. 1983;102(4):565–8.
DeMyer W, Zeman W, Palmer CG. The face predicts the brain: diagnostic significance of median facial anomalies for holoprosencephaly (arhinencephaly). Pediatrics. 1964;34(2):256–63.
Yakovlev PI. PATHOARCHITECTONIC STUDIES OF CEREBRAL MALFORMATIONS: III. ARRHINENCEPHALIES (HOLO℡ENCEPHALIES). J Neuropathol Exp Neurol. 1959;18(1):22–55.
Hong N-S, Su C-J, Kuo T-N, Tsai H-C, Lin MY-S, Loo T-C, et al. Early prenatal diagnosis of semilobar holoprosencephaly combined with a dorsal cyst and no facial defect. Taiwan J Obstet Gynecol. 2008;47(4):438–40.
Lahmar-Boufaroua A, Yacoubi MT, Mellouki S, Mokni M, Korbi S. [Holoprosencephaly: foetopathologic study of 15 cases]. Tunis Med. 2008;86(9):816–20.
Ming P-ML, Goodner DM, Park TS. Cytogenetic variants in holoprosencephaly: report of a case and review of the literature. Am J Dis Child. 1976;130(8):864–7.
Lim AS, Lim TH, Kee SK, Chia P, Raman S, Eu EL, et al. Holoprosencephaly: an antenally-diagnosed case series and subject review. Ann Acad Med Singap. 2008;37(7):594.