[Diagnosis of holoprosencephalia. Report of 17 cases]
- PMID: 11910693
[Diagnosis of holoprosencephalia. Report of 17 cases]
Abstract
Objective: To establish the epidemiologic profile of holoprosencephalia and determine benefits of ultrasound and foetopathologic examination to the diagnostic. METHODS AN MATERIAL: [corrected] 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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