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Revisiting acrania: same phenotype, different aetiologies.

Rosário Gorgal¹, Carla Ramalho, Otília Brandão

¹Prenatal 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

Fetal Diagnosis and Therapy

|December 15, 2010

Summary

This summary is machine-generated.

Investigating acrania (absence of the cranium) requires both prenatal and postmortem examinations to determine its diverse causes. These studies are crucial for understanding etiology and recurrence risks in future pregnancies.

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Area of Science:

Medical Genetics
Developmental Biology
Obstetrics

Background:

Acrania is a rare congenital anomaly characterized by the absence of the cranial vault.
Understanding the diverse etiologies of acrania is essential for genetic counseling and reproductive planning.

Purpose of the Study:

To assess the diagnostic value of prenatal and postmortem examinations in determining the causes of acrania.
To correlate phenotypic findings with underlying etiologies in cases of acrania.

Main Methods:

Retrospective analysis of 14 cases of acrania managed with elective pregnancy termination.
Review of prenatal diagnostic data and postmortem examination findings.
Inclusion of cytogenetic studies in a subset of cases.

Main Results:

Maternal age ranged from 18-40 years, with diagnosis typically by 13 weeks gestation.
Associated anomalies included chromosomal abnormalities (3/8), anophthalmia, cervical rachischisis, facial and limb defects, and amniotic band syndrome.
Maternal risk factors such as epilepsy, uncontrolled diabetes, and low folic acid use were noted.

Conclusions:

Acrania presents a varied phenotype stemming from multiple etiologies.
Cytogenetic studies and postmortem examinations are vital for definitive etiological diagnosis.
Establishing the underlying cause aids in understanding recurrence risks for subsequent pregnancies.