title: Intrapartum diagnostic of Roberts syndrome - case presentation.
abstract: Roberts syndrome is a rare disease, with multiple limb and skeletal abnormalities (called "pseudothalidomide disease"). There are only around 150 cases described in literature. We present a case of Roberts syndrome, diagnosed in moment of delivery, after a pregnancy without prenatal follow-up. The stillborn baby was naturally delivered by a 17-year-old primiparous woman at 38 weeks of amenorrhea. The pregnancy was not followed due to socioeconomic and family situation, and no prenatal ultrasound was performed. The male baby has 2650 g and presented several morphological abnormalities and tight double umbilical abdominal loop. The macroscopic evaluation showed: dolichocephaly, hypoplastic inferior maxilla with micrognathia, antimongoloid palpebral slant, pterygium colli, abnormal and lower implanted ears, superior limbs phocomelia, syndactyly at lower left limb and tetradactyly in all limbs, bilateral cryptorchidism, pancreatic aplasia. Roberts syndrome is a rare genetic disease with recessive autosomal transmission generated by mutations in ESCO2 gene, located on chromosome 8. The disease should be easy to diagnose by antenatal ultrasound examination, but in our case, the lack of prenatal follow-up determined the diagnostic at term. We believe consider this case is an argument towards introducing ultrasound-screening compulsory to all pregnancies. To identify a possible genetic mutation, further investigations of the parents are in progress, but classically the disease has a recessive autosomal transmission.
authors.affiliation: Department of Genetics, "Victor Babes" University of Medicine and Pharmacy, Timisoara, Romania; nicollandreescu@yahoo.com.
authors.forename: Răzvan Vladimir
authors.initials: RV
authors.lastname: Socolov
authors.forename: Nicoleta Ioana
authors.initials: NI
authors.lastname: Andreescu
authors.forename: Ana Maria
authors.initials: AM
authors.lastname: Haliciu
authors.forename: Eusebiu Vlad
authors.initials: EV
authors.lastname: Gorduza
authors.forename: Florentin
authors.initials: F
authors.lastname: Dumitrache
authors.forename: Raluca Anca
authors.initials: RA
authors.lastname: Balan
authors.forename: Maria
authors.initials: M
authors.lastname: Puiu
authors.forename: Mihaela Amelia
authors.initials: MA
authors.lastname: Dobrescu
authors.forename: Demetra Gabriela
authors.initials: DG
authors.lastname: Socolov
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D000293:Adolescent; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000473:pathology; D004480:Ectromelia / Q000175:diagnosis* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000175:diagnosis* / Q000473:pathology; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis