title: 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.
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.
authors.affiliation: The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital and The University of Toronto, Toronto, Ontario, Canada. dchitayat@mtsinai.on.ca
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
authors.forename: Sarah
authors.initials: S
authors.lastname: Keating
authors.forename: Dina J
authors.initials: DJ
authors.lastname: Zand
authors.forename: Teresa
authors.initials: T
authors.lastname: Costa
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Earl
authors.initials: E
authors.lastname: Silverman
authors.forename: George
authors.initials: G
authors.lastname: Tiller
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
authors.forename: Stephen
authors.initials: S
authors.lastname: Miller
authors.forename: John
authors.initials: J
authors.lastname: Kingdom
authors.forename: Ants
authors.initials: A
authors.lastname: Toi
authors.forename: Cynthia J R
authors.initials: CJ
authors.lastname: Curry
mesh_terms: D000328:Adult; D015551:Autoimmunity; D001724:Birth Weight; D002806:Chondrodysplasia Punctata / Q000000981:diagnostic imaging* / Q000209:etiology / Q000276:immunology*; D005260:Female; D006801:Humans; D007223:Infant; D008180:Lupus Erythematosus, Systemic / Q000150:complications*; D008947:Mixed Connective Tissue Disease / Q000150:complications*; D011247:Pregnancy; D011248:Pregnancy Complications; D011859:Radiography; D012595:Scleroderma, Systemic / Q000150:complications*; D055815:Young Adult