Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency
2015
Patient: Female, fetus
Final Diagnosis: Antley-Bixler syndrome
Symptoms: Craniosynostosis • midface hypoplasia • femoral bowing • radiohumeral synostosis
Medication: None
Clinical Procedure: Prenatal diagnosis of severe fetal bone disease using detailed ultrasonography and computed tomography
Specialty: Obstetrics and Gynecology • Maternal-Fetal Medicine
Objective:
Rare disease
Background:
Prenatal diagnosis of severe bone diseases is challenging and requires complete and precise analysis of fetal anomalies to guide genetic investigation and parental counselling.
Case Report:
We report a rare case of Antley-Bixler syndrome prenatally diagnosed at 26 weeks’ gestation by ultrasound and computed tomography in a 28-year-old woman with a history of early termination of pregnancy for “malposition of the inferior limbs”. The prenatal ultrasound scan showed severe femoral bowing and frontal bossing. Taking into account the high probability of a recurrent severe skeletal disorder, a computed tomography (CT) scan was proposed. CT findings revealed bilateral femora deformation, craniosynostosis, severe midface hypoplasia, and radiohumeral synostosis. These anomalies strongly suggested Antley-Bixler syndrome. Sequencing of the POR gene in the fetus and the parents revealed compound heterozygous mutations in exon 9 and intron 7, both inherited from each parent, and this finding allowed genetic counseling.
Conclusions:
The first step in the proper prenatal diagnosis of fetal bone disorders is the precise analysis of ultrasonographic images. However, when a severe fetal inherited disorder is strongly suspected in late mid-trimester, CT may be discussed and usefully contribute to diagnosis and prognosis assessment.
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