| Autor: |
Chitayat, David, Keating, Sarah, Zand, Dina J., Costa, Teresa, Zackai, Elaine H., Silverman, Earl, Tiller, George, Unger, Sheila, Miller, Stephen, Kingdom, John, Toi, Ants, Curry, Cynthia J.R. |
| Zdroj: |
American Journal of Medical Genetics. Part A; December 2008, Vol. 146 Issue: 23 p3038-3053, 16p |
| Abstrakt: |
Chondrodysplasia punctata CDP is etiologically a heterogeneous condition and has been associated with single gene disorders, chromosome abnormalities and teratogenic exposures. The first publication of the association between CDP and maternal autoimmune connective tissue disorder was by Curry et al. 1993. Chondrodysplasia punctata associated with maternal collagen vascular disease. A new etiology Presented at the David W. Smith Workshop on Morphogenesis and Malformations, Mont Tremblant, Quebec, August 1993 and subsequently, other cases have been reported. We report on eight cases of maternal collagen vascular disease associated with fetal CDP and included the cases reported by Curry et al. 1993. Chondrodysplasia punctata associated with maternal collagen vascular disease. A new etiology Presented at the David W. Smith Workshop on Morphogenesis and Malformations, Mont Tremblant, Quebec, August 1993 and Costa et al. 1993. Maternal systemic lupus erythematosis SLE and chondrodysplasia punctata in two infants. Coincidence or association 1st Meeting of Bone Dysplasia Society, Chicago, June 1993 which were reported in an abstract form. We suggest that maternal autoimmune diseases should be part of the differential diagnosis and investigation in newbornsfetuses with CDP. Thus, in addition to cardiac evaluation, fetusesnewborn to mothers with autoimmune diseases should have fetal ultrasoundnewborn examination and if indicated, Xrays, looking for absenthypoplastic nasal bone, brachydactyly, shortened long bones and epiphyseal stippling. © 2008 WileyLiss, Inc. |
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