Revisiting Acrania: Same Phenotype, Different Aetiologies

• Tipo: Artigo em Revista Científica Internacional
• Data: 2011

Autores

Gorgal, R (Autor) Outra; ramalho, c (Autor) FMUP; Brandao, O (Autor) Outra; matias, a (Autor) FMUP; Montenegro N (Autor) FMUP

Revista

Título: Fetal Diagnosis and Therapy

Vol. 29

Páginas: 164-168

ISSN: 1015-3837

Editora: Karger

Indexação

ISI Web of Knowledge - 4 Citações

Scopus - 5 Citações

Outras Informações

ID Authenticus: 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

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 5