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Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency

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 Specia...

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Detalles Bibliográficos
Autores principales: Oldani, Elena, Garel, Catherine, Bucourt, Martine, Carbillon, Lionel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4687943/
https://www.ncbi.nlm.nih.gov/pubmed/26670660
http://dx.doi.org/10.12659/AJCR.895526
Descripción
Sumario: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.