Chondrodysplasia punctata (CDP) comprises a heterogeneous group of disorders that result in abnormal development of the fetal skeleton. The hallmark of the condition is radiographic presence of abnormal islands of calcification in areas of endochondral bone formation associated with premature closure of growth plates. Recently, several cases have been described in infants born to mothers with systemic lupus erythematosus (SLE).Objectives-To describe the case of a mother with mixed connective tissue disease (MCTD) whose male and female offspring from two successive pregnancies had CDP in the absence of identifiable biochemical or genetic abnormalities or teratogen exposure.Methods-Description of a male and female offspring from a mother with MCTD harboring high titer anti-RNP antibodies. Maternal autoantibody assays were performed employing quantitative multiplex suspension arrays and flow cytometry, and autoantibody titer and pattern were determined by indirect immunofluorescence. Assays of phytanic acid, plasmalogen and very long chain fatty acids were performed employing commercially available reagents. Chromosomal analysis was performed on both offspring employing standard cytogenetic analysis. Review of the relevant literature was performed (PubMed search 1966 through July 2008).
SPONASTRIME dysplasia (SD) is an autosomal recessive skeletal dysplasia of the spondyloepimetaphyseal dysplasia (SEMD) type. The name was derived from "spondylar and nasal alterations with striated metaphyses" [Fanconi et al. 1983; Helv Paediat Acta 38: 267-280]. We follow two previously reported patients with SD [Patients 3, 4 in Langer et al. 1996; Am J Med Genet 63: 20-27]. Since the original publication, additional findings were identified in these patients.
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