title: Genetic skeletal disorders of the fetus and infant: pathologic and molecular findings in a series of 41 cases.
abstract: BACKGROUND
  Genetic skeletal disorders of the fetus and infant are a large group of genetic disorders, comprising the groups formerly assigned as skeletal dysplasias (osteochondrodysplasias), dysostoses, and malformation syndromes with a skeletal component. Genetic skeletal disorders may be prenatally detected by ultrasonography or result in intrauterine or early postnatal death, constituting one difficult diagnostic field met by the pathologist who performs the perinatal autopsy.
  
  
  METHODS
  In this retrospective study, we have gathered radiologic, physical, histopathologic, and molecular data regarding 41 cases of genetic skeletal disorders diagnosed among 1980 fetal and perinatal autopsies over a 10-year period.
  
  
  RESULTS
  Our series of cases were classified according to the 2006 Nosology and Classification of Genetic Skeletal Disorders. The overall frequency of genetic skeletal disorders was 1:48 autopsies. The FGFR3 group and osteogenesis imperfecta type 2 were the more frequently encountered disorders. The mean gestational age at autopsy was 21.9 weeks (range, 12-37 weeks). A final diagnosis was obtained in 95% of cases. Genetic skeletal disorders were detected by prenatal ultrasound in 90% of cases, with a correct typing of the disorder achieved in only 34%. Molecular analysis was confirmative in 5 cases.
  
  
  CONCLUSIONS
  The central role of the perinatal pathologist in collaboration with specialized services is essential for the correct interpretation of the radiologic, physical, and histopathologic findings, to accurately classify specific types of genetic skeletal disorders and enable genetic counseling.
authors.affiliation: Department of Pathology, Medical School, National Kapodistrian University of Athens, Greece. ankon@med.uoa.gr
authors.forename: Anastasia E
authors.initials: AE
authors.lastname: Konstantinidou
authors.forename: Georgios
authors.initials: G
authors.lastname: Agrogiannis
authors.forename: Stavros
authors.initials: S
authors.lastname: Sifakis
authors.forename: Apostolos
authors.initials: A
authors.lastname: Karantanas
authors.forename: Vassileios
authors.initials: V
authors.lastname: Harakoglou
authors.forename: Petros
authors.initials: P
authors.lastname: Kaminopetros
authors.forename: Angeliki
authors.initials: A
authors.lastname: Hatzaki
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
authors.forename: Charalampos
authors.initials: C
authors.lastname: Karadimas
authors.forename: Voula
authors.initials: V
authors.lastname: Velissariou
authors.forename: Stylianos
authors.initials: S
authors.lastname: Velonis
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Papantoniou
authors.forename: Aristeidis
authors.initials: A
authors.lastname: Antsaklis
authors.forename: Efstratios
authors.initials: E
authors.lastname: Patsouris
mesh_terms: D001344:Autopsy; D001847:Bone Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D009154:Mutation; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal
chemical_list: C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3