Chondrodysplasia punctata in siblings and maternal lupus erythematosus

University of Cape Town, Kaapstad, Western Cape, South Africa
Clinical Genetics (Impact Factor: 3.93). 01/2005; 66(6):545-9. DOI: 10.1111/j.1399-0004.2004.00364.x
Source: PubMed


Chondrodysplasia punctata (CDP) was diagnosed clinically and radiographically in a male child born in Cape Town in 1991. His only sibling, a brother born in 2000 was similarly but more severely affected. The boys' mother had longstanding disseminated lupus erythematosus and epilepsy, for which she had been treated with chloraquine and other therapeutic agents during both pregnancies. The parents were non-consanguineous, and the family history was unremarkable. In addition to these affected brothers, seven previous instances of the association of CDP and maternal lupus erythematosus (MLE) have been reported. On this basis, MLE must be regarded as yet another causative factor in CDP.

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    • "CDP is associated with inborn metabolic diseases in the course of peroxisome dysfunction and disturbances of cholesterol biosynthesis as well as other inborn metabolic errors, including type 2 mucolipidosis, type 3 mucopolysaccharidosis and gangliosidosis GM1 [1,2]. Vitamin K-dependent metabolic abnormalities [5], use of warfarin during pregnancy [6], autoimmunological disease in a mother (systemic lupus erythematosus) [1,7,8], fetal alcohol syndrome FAS [4], chromosomal aberrations: trisomy 18 and 21 and Turner syndrome [3], which give symptoms typical for CDP, exert harmful influence on the embryo. "
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    ABSTRACT: Chondrodysplasia punctata (CDP) is a rare, heterogeneous congenital skeletal dysplasia, characterized by punctate or dot-like calcium deposits in cartilage observed on neonatal radiograms. A number of inborn metabolic diseases are associated with CDP, including peroxisomal and cholesterol biosynthesis dysfunction and other inborn errors of metabolism such as: mucolipidosis type II, mucopolysacharidosis type III, GM1 gangliosidosis. CDP is also related to disruption of vitamin K-dependent metabolism, causing secondary effects on the embryo, as well as fetal alcohol syndrome (FAS), chromosomal abnormalities that include trisomies 18 and 21, Turner syndrome. This article presents clinical data and diagnostic imaging findings of two newborn babies with chondrodysplasia punctata. Children presented with skeletal and cartilage anomalies, dysmorphic facial feature, muscles tone abnormalities, skin changes and breathing difficulties. One of the patients demonstrated critical stenosis of spinal canal with anterior subluxation of C1 vertebra relative to C2. The aim of this article is to present cases and briefly describe current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases coexisting with CDP. Radiological diagnostic imaging allows for visualization of punctate focal mineralization in bone epiphyses during neonatal age and infancy. Determining the etiology of chondrodysplasia punctata requires performing various basic as well as additional examinations, including genetic studies.
    Polish Journal of Radiology 03/2013; 78(2):57-64. DOI:10.12659/PJR.883947
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    • "Based on available data from 9/19 SLE-associated CDP cases, maternal autoantibodies in the CPD infants were not observed [Chitayat et al., 2008]. Six cases reported are siblings from three different families [Elcioglu and Hall, 1998; Kozlowski et al., 2004; Schulz et al., 2010]. In the cases described by Mansour et al. [1994], the patient was the second dizygotic twin sister, whereas the twin sister appeared normal. "

    American Journal of Medical Genetics Part A 06/2011; 155A(6):1487-91. DOI:10.1002/ajmg.a.33995 · 2.16 Impact Factor
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    • "Following these publications a few other cases have been published in peer reviewed journal [Mansour et al., 1994; Austin-Ward et al., 1998; Elcioglu and Hall, 1998; Kelly et al., 1999; Kozlowski et al., 2004; Shanske et al., 2007]. In addition, the mother of a case of a prenatally diagnosed CDP described by Furness et al. [1991] was subsequently found to have evidence of connective tissue disease (Furness, personal communication). "
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    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.
    American Journal of Medical Genetics Part A 12/2008; 146A(23):3038-53. DOI:10.1002/ajmg.a.32554 · 2.16 Impact Factor
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