Document Detail

Revisiting Acrania: Same Phenotype, Different Aetiologies.
MedLine Citation:
PMID:  21150156     Owner:  NLM     Status:  Publisher    
Objective: To evaluate the contribution of prenatal and postmortem examinations in establishing the aetiology of acrania. Methods: Retrospective evaluation of 14 cases of acrania managed through elective termination of pregnancy. Results: The median maternal age was 30 years (range 18-40) and median gestational age at diagnosis was 13 weeks (range 12-15). One mother had epilepsy and was taking anticonvulsants and another had uncontrolled type II diabetes mellitus. Only 3 women were using folic acid at conception. Chromosomal abnormalities were detected in 3 of 8 cases analyzed. Unilateral anopthalmia, cervical rachischisis, midline facial and limb defects coexisted with acrania in 4 cases. Acrania with craniofacial dysmorphism and asymmetrical finger amputation were observed in a case of amniotic band syndrome. A previous history of anencephaly was documented in 1 case. Conclusion: Acrania is a characteristic phenotypic expression of a variety of different aetiologies. Investigation with cytogenetic studies and postmortem are essential to provide a definitive answer. This will provide a better understanding of the underlying aetiology and help establish the recurrence risk for future pregnancies.
Rosário Gorgal; Carla Ramalho; Otília Brandão; Alexandra Matias; Nuno Montenegro
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2010-12-11
Journal Detail:
Title:  Fetal diagnosis and therapy     Volume:  -     ISSN:  1421-9964     ISO Abbreviation:  -     Publication Date:  2010 Dec 
Date Detail:
Created Date:  2010-12-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9107463     Medline TA:  Fetal Diagn Ther     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2010 S. Karger AG, Basel.
Prenatal Diagnosis Center, Department of Gynecology and Obstetrics, São João Hospital, Medicine Faculty, University of Porto, Porto, Portugal.
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