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Fetal fibrochondrogenesis at 26 weeks' gestation |
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| Authors: | Hanitra Randrianaivo Georges Haddad Horatiu Roman Anne Lise Annick Toutain Martine Le Merrer Claude Moraine |
| Institution: | 1. Foetal Medicine Unit, Department of Gynaecology and Obstetrics, South Reunion Hospital Group, 97448 Saint Pierre, La Réunion, France;2. Department of Genetics, Tours University Hospital, Boulevard Tonnelé, 47000 Tours, France;3. Department of Gynaecology and Obstetrics, South Reunion Hospital Group, 97448 Saint Pierre, La Réunion, France;4. Foetopathology Unit, Department of Developmental Biology, Robert Debré Hospital, AP-HP, 48 Sérurrier Boulevard, 75935 Paris, France;5. Department of Medical Genetics, Necker-Enfants Malades Hospital Group, 149 Sèvres Boulevard, 75743 Paris, France |
| Abstract: | An Erratum has been published for this article in Prenatal Diagnosis 22(13) 2002, 1241. Fibrochondrogenesis is a rare and lethal osteochondrodysplasia with an autosomal recessive mode of inheritance. We report a male fetus in which the diagnosis of lethal osteochondrodysplasia was suspected on prenatal ultrasound and radiological examinations during the second trimester of pregnancy. After termination of pregnancy, fibrochondrogenesis was diagnosed by radiological examination and histological study of fetal bones. Interwoven fibrous septa and fibroblastic degeneration of chondrocytes are pathognomonic. The recurrence rate is 25% and accurate diagnosis is necessary to enable genetic counselling. Copyright © 2002 John Wiley & Sons, Ltd. |
| Keywords: | lethal osteochondrodysplasia skeletal dysplasia fibrochondrogenesis prenatal diagnosis |