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.

Lethal epiphyseal stippling in the foetus and neonate; pathological implications

“…This foetus had severe asymmetric intrauterine restriction and a placenta with chorionic villi showing evidence of ischaemia, so maternal vascular disease may have played a role. In this context, maternal lupus erythematosus has been implicated as a cause of stippling [8][9][10], as have other forms of autoimmune disease [11,12], but we were unable to obtain a history of conditions in these categories in the mother of this foetus.…”

Prenatally Diagnosed Cases of Binder Phenotype Complicated by Respiratory Distress in the Immediate Postnatal Period

“…The etiology is heterogeneous, with multiple causative categories described: teratogenic/environmental (eg, maternal exposure to warfarin, alcohol, phenytoin, rubella, autoimmune disorders, hyperemesis, and vitamin K deficiency), chromosomal (eg, Xp22.3 deletion), and single gene disorders (eg, autosomal recessive chondrodysplasia punctata, brachytelephalangic chondrodysplasia punctata, Conradi-Hunermann syndrome, Keutel syndrome, Stickler syndrome, Robinow syndrome, and infantile sialic acid storage disorder). 2,12,13 Although Binder phenotype can be an isolated finding, it is very often associated with chondrodysplasia punctata: the radiographic appearance of abnormal cartilaginous stippling as the result of calcium deposition during endochondral bone formation. Chondrodysplasia punctata is an etiologically heterogeneous finding of stippled epiphyses (punctate calcifications) along the spine, proximal epiphyseal edge, and calcaneus.…”

A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies

“…3,13 Another group of children with BCP are born to mothers with autoimmune diseases. [17][18][19] It was proposed that maternal autoantibodies might perturb fetal vitamin K metabolism, 20 thereby reducing the etiology of all phenocopies to disturbances in vitamin K metabolism at a critical fetal time period. Although this hypothesis remains to be proven, it was not clear how many patients with BCP might be phenocopies due to maternal vitamin K deficiency states.…”