title: Fibrochondrogenesis in male twins at 24 weeks gestation.
abstract: Fibrochondrogenesis is a rare lethal chondrodysplasia. Only 5 cases have been reported. We report on a pair of affected twins diagnosed at 24 weeks of gestation. Occurrence in sibs and consanguinity in the parents in a previous report support autosomal recessive transmission.
authors.affiliation: Murdoch Institute, Royal Children's Hospital, Melbourne, Australia.
authors.forename: A
authors.initials: A
authors.lastname: Bankier
authors.forename: D
authors.initials: D
authors.lastname: Fortune
authors.forename: J
authors.initials: J
authors.lastname: Duke
authors.forename: D O
authors.initials: DO
authors.lastname: Sillence
mesh_terms: D000469:Alkaline Phosphatase / Q000097:blood; D002118:Calcium / Q000097:blood; D002356:Cartilage / Q000002:abnormalities / Q000648:ultrastructure; D003937:Diagnosis, Differential; D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005808:Genes, Recessive; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014430:Twins, Monozygotic
chemical_list: D000469:Alkaline Phosphatase; D002118:Calcium