Diagnosis of holoprosencephalia. Report of 17 cases |
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| Authors: | 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 |
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| Affiliation: | Centre de Maternité et de Néonatologie de Tunis. |
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| Abstract: | OBJECTIVE: To establish the epidemiologic profile of holoprosencephalia and determine benefits of ultrasound and foetopathologic examination to the diagnostic. METHODS AN MATERIEL: Retrospective study about 17 cases of holoprosencephalia observed in CMNT between Janaury 1992 and September 2000. RESULTS: 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. CONCLUSION: The foetopathology and genetic counselling looking for fascial, dysmorphia in family's members gives a good evaluation of recurrences. |
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