Fibrochondrogenesis in male twins at 24 weeks gestation.
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.
Bankier
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Murdoch Institute, Royal Children's Hospital, Melbourne, Australia.
Fortune
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Duke
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Sillence
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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
D000469:Alkaline Phosphatase; D002118:Calcium