Diagnosis of holoprosencephalia. Report of 17 cases
Siala Gaigi, S.; Masmoudi, A.; Chennoufi, M.B.; Jabnoun, S.; Ben Romdhane, B.; Chaabouni, M.; Mabrouk, A.; Neji, K.; Chabchoub, A.; Sfar, E.; Lebbi, I.; Zouari, F.; Chelli, H.; Rezigua, H.; Chaabouni, H.; Khrouf, N.
La Tunisie Medicale 79(10): 526-529
2001
ISSN/ISBN: 0041-4131 PMID: 11910693 Document Number: 530513
To establish the epidemiologic profile of holoprosencephalia and determine benefits of ultrasound and foetopathologic examination to the diagnostic. METHODS AN MATERIAL: Retrospective study about 17 cases of holoprosencephalia observed in CMNT between Janaury 1992 and September 2000. Ultrasound diagnosis was made in 13 cases (75%). Ultrasound criteria were; absence of median structure of the brain and unique ventricule. The prognosis was always bad. Foetopathologic examination revealed 7 cases of lobar holoproencephalia and 10 of semi lobar. Fascial dysmorphia were noted in 82% of cases. The foetopathology and genetic counselling looking for fascial, dysmorphia in family's members gives a good evaluation of recurrences.