Revisiting Acrania: Same Phenotype, Different Aetiologies

• Type: Article in International Scientific Journal
• Date: 2011

Authors

Gorgal, R (Author) Other; ramalho, c (Author) FMUP; Brandao, O (Author) Other; matias, a (Author) FMUP; Montenegro N (Author) FMUP

Journal

Title: Fetal Diagnosis and Therapy

Vol. 29

Pages: 164-168

ISSN: 1015-3837

Publisher: Karger

Indexing

ISI Web of Knowledge - 4 Citations

Scopus - 5 Citations

Other information

Authenticus ID: P-002-YKD

DOI: 10.1159/000320735

Abstract (EN): 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. Copyright (C) 2010 S. Karger AG, Basel

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5