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Warfarin-induced brachytelephalangic chondrodysplasia punctata

Journal of Perinatology volume 30, pages 437–438 (2010)Cite this article

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This child has chondrodysplasia punctata (CP) with small punctate (stippled or paint spattering) calcifications, particularly in the lower spine and pelvis and greater trochanters of the hips. These punctate calcifications may occur in epiphyses, small bones (so-called epiphyseal-equivalent centers) and in the tracheobronchial tree. CP is a radiographic manifestation of a great number of genetic conditions, including autosomal dominant Conradi–Hunermann syndrome, X-linked recessive CP (XRCP), X-linked dominant CP (Happle's syndrome), autosomal recessive rhizomelic CP, Keutel's syndrome and Zellweger's syndrome.1 CP can also occur in non-genetic conditions such as fetal warfarin, diphenylhydantoin and alcohol embryopathies, as well as in maternal autoimmune diseases, especially in system lupus erythematosis.1, 2

In addition to CP, this child has very small distal phalanges in the hands, so-called brachytelephalangy and nasomaxillary hypoplasia. In a male infant, the findings of CP, nasomaxillary dysplasia and brachytelephalangy suggest XRCP or so-called brachytelephalangic CP.3 This diagnosis could be confirmed by demonstration of a defect in the vitamin K-dependent enzyme arylsulfatase E (ARSE), owing to mutations at the Xp chromosome. XRCP is a contiguous gene syndrome to X-linked ichthyosis and to Kallmann's syndrome (anosmia and hypogonadism).4

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  1. Mallinckrodt Institute of Radiology, Washington University School of Medicine, St Louis, MO, USA

    T E Herman & M J Siegel

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  1. T E Herman
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  2. M J Siegel
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Correspondence to T E Herman.

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Herman, T., Siegel, M. Warfarin-induced brachytelephalangic chondrodysplasia punctata. J Perinatol 30, 437–438 (2010). https://doi.org/10.1038/jp.2010.28

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