title: Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Department of Obstetrics & Gynecology, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Bondy, France.
authors.forename: Elena
authors.initials: E
authors.lastname: Oldani
authors.affiliation: Department of Radiology, Hôpital Armand Trousseau, Assistance Publique-Hôpitaux de Paris, Bondy, France.
authors.forename: Catherine
authors.initials: C
authors.lastname: Garel
authors.affiliation: Department of Pathology, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Bondy, France.
authors.forename: Martine
authors.initials: M
authors.lastname: Bucourt
authors.affiliation: Department of Obstetrics & Gynecology, Hôpital Jean Verdier, Assistance Publique-Hôpitaux de Paris, Bondy, France.
authors.forename: Lionel
authors.initials: L
authors.lastname: Carbillon
mesh_terms: D000328:Adult; D054882:Antley-Bixler Syndrome Phenotype / Q000175:diagnosis* / Q000196:embryology; D003577:Cytochrome P-450 Enzyme System / Q000172:deficiency* / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis*; D006801:Humans; D021621:Imaging, Three-Dimensional; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D014057:Tomography, X-Ray Computed; D016216:Ultrasonography, Prenatal
chemical_list: C000602470:POR protein, human; D003577:Cytochrome P-450 Enzyme System