title: Revisiting acrania: same phenotype, different aetiologies.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Prenatal Diagnosis Center, Department of Gynecology and Obstetrics, São João Hospital, Medicine Faculty, University of Porto, Rua Damião de Góis No. 363, Porto, Portugal. rosarinholopes@hotmail.com
authors.forename: Rosário
authors.initials: R
authors.lastname: Gorgal
authors.forename: Carla
authors.initials: C
authors.lastname: Ramalho
authors.forename: Otília
authors.initials: O
authors.lastname: Brandão
authors.forename: Alexandra
authors.initials: A
authors.lastname: Matias
authors.forename: Nuno
authors.initials: N
authors.lastname: Montenegro
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D005333:Fetus / Q000002:abnormalities; D006801:Humans; D009436:Neural Tube Defects / Q000000981:diagnostic imaging / Q000209:etiology*; D010641:Phenotype; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D012189:Retrospective Studies; D012886:Skull / Q000002:abnormalities; D016216:Ultrasonography, Prenatal; D055815:Young Adult