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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

Authors

  • David Chitayat,

    Corresponding author
    1. The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital and The University of Toronto, Toronto, Ontario, Canada
    2. Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children and The University of Toronto, Toronto, Ontario, Canada
    • The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Ontario Hydro Generation Building, 700 University Avenue, 3rd floor, Rm. 3292, Toronto, Ontario, Canada.
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  • Sarah Keating,

    1. Department of Pathology, Mount Sinai Hospital and The University of Toronto, Toronto, Ontario, Canada
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  • Dina J. Zand,

    1. Division of Human and Molecular Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA
    Current affiliation:
    1. Division of Genetics and Metabolism, Department of Pediatrics, Children's National Medical Center, George Washington University School of Medicine and Health Sciences, Washington. DC.
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  • Teresa Costa,

    1. Department of Medical Genetics. McGill University Health Centre, Montreal, Quebec, Canada
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  • Elaine H. Zackai,

    1. Division of Human and Molecular Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA
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  • Earl Silverman,

    1. Division of Rhematology, Department of Pediatrics, The Hospital for Sick Children and The University of Toronto, Toronto, Ontario, Canada
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  • George Tiller,

    1. Program in Human Genetics, Department of Pediatrics, Vanderbilt University Medical Centre, Nashville, TN
    Current affiliation:
    1. Department of Genetics, Southern California Permanente Medical Group, CA.
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  • Sheila Unger,

    1. Institute of Human Genetics, Breisacher strasse 33 D-79106, Freiburg, Germany
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  • Stephen Miller,

    1. Division of Diagnostic Imaging, Department of Pediatrics, The Hospital for Sick Children and The University of Toronto, Toronto, Ontario, Canada
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  • John Kingdom,

    1. Department of Obstetrics and Gynecology, Mount Sinai Hospital and The University of Toronto, Toronto, Ontario, Canada
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  • Ants Toi,

    1. Division of Diagnostic Imaging, Mount Sinai Hospital and The University of Toronto, Toronto, Ontario, Canada
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  • Cynthia J.R. Curry

    1. Genetic Medicine Central California/UCSF, San Francisco, Fresno, California
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  • How to cite this article: Chitayat D, Keating S, Zand DJ, Costa T, Curry CJR, Silverman E, Tiller G, Unger S, Miller S, Kingdom J, Toi A, Zackai EH. 2008. 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 8 cases. Am J Med Genet Part A 146A:3038–3053.

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.

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