title: Pathologic, radiographic and molecular findings in three fetuses diagnosed with HEM/Greenberg skeletal dysplasia.
abstract: BACKGROUND
  Greenberg skeletal dysplasia is a very rare, autosomal recessive, in utero, lethal chondrodystrophy for which only eight index cases of diverse ethnic origin have been reported so far. The defect is associated with a defect in cholesterol biosynthesis and due to mutations in the gene encoding the lamin B receptor (LBR).
  
  
  METHODS
  A familial case of three fetuses of a consanguineous Greek couple is presented including prenatal, physical, radiographic, histopathologic, and molecular genetic findings.
  
  
  RESULTS
  The tentative diagnosis of Greenberg skeletal dysplasia based on pathological findings was confirmed by the identification of a homozygous, N547D amino acid substitution in the LBR gene in the third affected fetus.
  
  
  CONCLUSIONS
  The present case represents the ninth described case of Greenberg dysplasia and the second case of Greek origin. The characteristic 'moth-eaten' radiographic appearance is already seen at 13 weeks' gestational age.
authors.affiliation: Department of Pathology, National University of Athens, Greece.
authors.forename: Anastasia
authors.initials: A
authors.lastname: Konstantinidou
authors.forename: Charalampos
authors.initials: C
authors.lastname: Karadimas
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: Petros
authors.initials: P
authors.lastname: Kaminopetros
authors.forename: Maria
authors.initials: M
authors.lastname: Grigoriadou
authors.forename: Haris
authors.initials: H
authors.lastname: Kokotas
authors.forename: George
authors.initials: G
authors.lastname: Agrogiannis
authors.forename: Aglaia
authors.initials: A
authors.lastname: Giannoulia-Karantana
authors.forename: Efstratios
authors.initials: E
authors.lastname: Patsouris
authors.forename: Michael B
authors.initials: MB
authors.lastname: Petersen
mesh_terms: D000025:Abortion, Eugenic; D000328:Adult; D001848:Bone Diseases, Developmental / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D008297:Male; D009999:Ossification, Heterotopic / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics; D016216:Ultrasonography, Prenatal; D000097682:Lamin B Receptor
chemical_list: D018160:Receptors, Cytoplasmic and Nuclear; D000097682:Lamin B Receptor