Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases
Identifieur interne : 001A19 ( Main/Exploration ); précédent : 001A18; suivant : 001A20Chondrodysplasia punctata associated with maternal autoimmune diseases: Expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases
Auteurs : David Chitayat [Canada] ; Sarah Keating [Canada] ; Dina J. Zand [États-Unis] ; Teresa Costa [Canada] ; Elaine H. Zackai [États-Unis] ; Earl Silverman [Canada] ; George Tiller [États-Unis] ; Sheila Unger [Allemagne] ; Stephen Miller [Canada] ; John Kingdom [Canada] ; Ants Toi [Canada] ; Cynthia J. R. Curry [États-Unis]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2008-12-01.
English descriptors
- Teeft :
- Abnormality, Alae nasi, American journal, Autoantibody, Autoimmune, Autoimmune diseases, Autoimmune disorders, Birth weight, Brachydactyly, Centile, Chitayat, Cholesterol metabolism, Chondrodysplasia, Chondrodysplasia punctata, Chromosome abnormalities, Congenital, Congenital heart block, Connective tissue disease, Disorder, Distal phalanges, Dysplasia, Dysplasia society, Epiphyseal, Epiphyseal stippling, Epiphysis, Erythematosus, Etiology, Family history, Female infant, Femoral, Femur, Fetal, Fetal ultrasound, Fetus, Gene encoding, Genet, Genet part, Genetics, Gestation, Gure, Head circumference, Heterogeneous condition, High forehead, Hypoplasia, Hypoplastic, Long bones, Long philtrum, Lupus, Lupus erythematosus, Male fetus, Mansour, Maternal, Maternal autoantibodies, Maternal collagen, Matrix, Mctd, Medical genetics part, Metabolism, Midfacial hypoplasia, Mont tremblant, More cases, Mutation, Nasal, Nasal bone, Nasal bridge, Nasal hypoplasia, Ndings, Neonatal, Neonatal lupus, Ngers, Nonconsanguineous, Online, Online issue, Ontario, Pediatrics, Percentile, Peroxisomal, Phalange, Philtrum, Primigravida woman, Prominent eyes, Proximal, Proximal femora, Proximal femurs, Punctata, Punctate, Rheumatoid arthritis, Sacrum, Scleroderma, Short stature, Sick children, Sinai hospital, Skeletal dysplasia, Skeletal survey, Small ears, Smith workshop, Stippled, Stippled epiphyses, Stippling, Syndrome, Systemic lupus erythematosus, Target proteins, Tarsal, Tarsal bones, Trisomy, Ultrasound, Upper thoracic vertebrae, Vertebra, Vertebral bodies, Weeks gestation.
Abstract
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 newborns/fetuses with CDP. Thus, in addition to cardiac evaluation, fetuses/newborn to mothers with autoimmune diseases should have fetal ultrasound/newborn examination and if indicated, X‐rays, looking for absent/hypoplastic nasal bone, brachydactyly, shortened long bones and epiphyseal stippling. © 2008 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.32554
Affiliations:
- Allemagne, Canada, États-Unis
- Bade-Wurtemberg, Californie, District de Fribourg-en-Brisgau, Ontario, Pennsylvanie, Tennessee
- Fribourg-en-Brisgau, Toronto
- Université de Toronto
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R." last="Curry">Cynthia J. R. Curry</name><affiliation wicri:level="2"><country>États-Unis</country><placeName><region type="state">Californie</region></placeName><wicri:cityArea>Genetic Medicine Central California/UCSF, San Francisco, Fresno</wicri:cityArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">146A</biblScope><biblScope unit="issue">23</biblScope><biblScope unit="page" from="3038">3038</biblScope><biblScope unit="page" to="3053">3053</biblScope><biblScope unit="page-count">16</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-12-01">2008-12-01</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="Teeft" xml:lang="en"><term>Abnormality</term><term>Alae nasi</term><term>American journal</term><term>Autoantibody</term><term>Autoimmune</term><term>Autoimmune diseases</term><term>Autoimmune disorders</term><term>Birth weight</term><term>Brachydactyly</term><term>Centile</term><term>Chitayat</term><term>Cholesterol metabolism</term><term>Chondrodysplasia</term><term>Chondrodysplasia punctata</term><term>Chromosome abnormalities</term><term>Congenital</term><term>Congenital heart block</term><term>Connective tissue disease</term><term>Disorder</term><term>Distal phalanges</term><term>Dysplasia</term><term>Dysplasia society</term><term>Epiphyseal</term><term>Epiphyseal stippling</term><term>Epiphysis</term><term>Erythematosus</term><term>Etiology</term><term>Family history</term><term>Female infant</term><term>Femoral</term><term>Femur</term><term>Fetal</term><term>Fetal ultrasound</term><term>Fetus</term><term>Gene encoding</term><term>Genet</term><term>Genet part</term><term>Genetics</term><term>Gestation</term><term>Gure</term><term>Head circumference</term><term>Heterogeneous condition</term><term>High forehead</term><term>Hypoplasia</term><term>Hypoplastic</term><term>Long bones</term><term>Long philtrum</term><term>Lupus</term><term>Lupus erythematosus</term><term>Male fetus</term><term>Mansour</term><term>Maternal</term><term>Maternal autoantibodies</term><term>Maternal collagen</term><term>Matrix</term><term>Mctd</term><term>Medical genetics part</term><term>Metabolism</term><term>Midfacial hypoplasia</term><term>Mont tremblant</term><term>More cases</term><term>Mutation</term><term>Nasal</term><term>Nasal bone</term><term>Nasal bridge</term><term>Nasal hypoplasia</term><term>Ndings</term><term>Neonatal</term><term>Neonatal lupus</term><term>Ngers</term><term>Nonconsanguineous</term><term>Online</term><term>Online issue</term><term>Ontario</term><term>Pediatrics</term><term>Percentile</term><term>Peroxisomal</term><term>Phalange</term><term>Philtrum</term><term>Primigravida woman</term><term>Prominent eyes</term><term>Proximal</term><term>Proximal femora</term><term>Proximal femurs</term><term>Punctata</term><term>Punctate</term><term>Rheumatoid arthritis</term><term>Sacrum</term><term>Scleroderma</term><term>Short stature</term><term>Sick children</term><term>Sinai hospital</term><term>Skeletal dysplasia</term><term>Skeletal survey</term><term>Small ears</term><term>Smith workshop</term><term>Stippled</term><term>Stippled epiphyses</term><term>Stippling</term><term>Syndrome</term><term>Systemic lupus erythematosus</term><term>Target proteins</term><term>Tarsal</term><term>Tarsal bones</term><term>Trisomy</term><term>Ultrasound</term><term>Upper thoracic vertebrae</term><term>Vertebra</term><term>Vertebral bodies</term><term>Weeks gestation</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="fr">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 newborns/fetuses with CDP. Thus, in addition to cardiac evaluation, fetuses/newborn to mothers with autoimmune diseases should have fetal ultrasound/newborn examination and if indicated, X‐rays, looking for absent/hypoplastic nasal bone, brachydactyly, shortened long bones and epiphyseal stippling. © 2008 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Canada</li><li>États-Unis</li></country><region><li>Bade-Wurtemberg</li><li>Californie</li><li>District de Fribourg-en-Brisgau</li><li>Ontario</li><li>Pennsylvanie</li><li>Tennessee</li></region><settlement><li>Fribourg-en-Brisgau</li><li>Toronto</li></settlement><orgName><li>Université de Toronto</li></orgName></list><tree><country name="Canada"><region name="Ontario"><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name></region><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name><name sortKey="Costa, Teresa" sort="Costa, Teresa" uniqKey="Costa T" first="Teresa" last="Costa">Teresa Costa</name><name sortKey="Keating, Sarah" sort="Keating, Sarah" uniqKey="Keating S" first="Sarah" last="Keating">Sarah Keating</name><name sortKey="Kingdom, John" sort="Kingdom, John" uniqKey="Kingdom J" first="John" last="Kingdom">John Kingdom</name><name sortKey="Miller, Stephen" sort="Miller, Stephen" uniqKey="Miller S" first="Stephen" last="Miller">Stephen Miller</name><name sortKey="Silverman, Earl" sort="Silverman, Earl" uniqKey="Silverman E" first="Earl" last="Silverman">Earl Silverman</name><name sortKey="Toi, Ants" sort="Toi, Ants" uniqKey="Toi A" first="Ants" last="Toi">Ants Toi</name></country><country name="États-Unis"><region name="Pennsylvanie"><name sortKey="Zand, Dina J" sort="Zand, Dina J" uniqKey="Zand D" first="Dina J." last="Zand">Dina J. Zand</name></region><name sortKey="Curry, Cynthia J R" sort="Curry, Cynthia J R" uniqKey="Curry C" first="Cynthia J. R." last="Curry">Cynthia J. R. Curry</name><name sortKey="Tiller, George" sort="Tiller, George" uniqKey="Tiller G" first="George" last="Tiller">George Tiller</name><name sortKey="Zackai, Elaine H" sort="Zackai, Elaine H" uniqKey="Zackai E" first="Elaine H." last="Zackai">Elaine H. Zackai</name></country><country name="Allemagne"><region name="Bade-Wurtemberg"><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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