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

David Chitayat, Sarah Keating, Dina J. Zand, Teresa Costa, Elaine H. Zackai, Earl Silverman, George Tiller, Sheila Unger, Stephen Miller, John Kingdom, Ants Toi, Cynthia J.R. Curry

Research output: Contribution to journalArticle

29 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)3038-3053
Number of pages16
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number23
DOIs
StatePublished - Dec 1 2008

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Chondrodysplasia Punctata
Mixed Connective Tissue Disease
Systemic Lupus Erythematosus
Autoimmune Diseases
Mothers
Collagen Diseases
Vascular Diseases
Quebec
Newborn Infant
Morphogenesis
Fetus
Brachydactyly
Developmental Bone Disease
Chromosome Disorders
Nasal Bone
Education
Connective Tissue
Publications
Differential Diagnosis
X-Rays

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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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. / 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.

In: American Journal of Medical Genetics, Part A, Vol. 146, No. 23, 01.12.2008, p. 3038-3053.

Research output: Contribution to journalArticle

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. / 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. In: American Journal of Medical Genetics, Part A. 2008 ; Vol. 146, No. 23. pp. 3038-3053.
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