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Marshall–Smith syndrome

Journal of Perinatology volume 35, pages 307–309 (2015)Cite this article

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The patient was diagnosed clinically with Marshall–Smith syndrome (MSS). This syndrome, first described in 1971 consists of facial dysmorphism, failured to thrive and markedly accelerated skeletal maturation at birth. The facial characteristics that were evident in this child: broad forehead, shallow orbits, microretrognthia, choanal stenosis, underdeveloped helix and antihelix of the auricle and hypertelorism.1 Other characteristic skeletal findings of this osteochondrodysplasia include; broad bullet-shaped proximal and middle phalanges and narrow distal phalanges of the hands, thin ribs and long bones, and large hypersegmented coccygeal ossification centers;2, 3 which are seen in this patient. The bone age is characteristically advanced at birth and may be as much as 3 years of age.4, 5 Opthalmologic findings include optic atrophy, megalocornea and blue sclerae andmegalocornia.5 However, posterior embryotoxon has not previously been described to our knowledge in MSS. Posterior embryotoxon was first described by Axenfeld and Reiger in the syndrome that bears their name, but also occurs in Alagille arteriohepatic dysplasia. It is a thickening of Schwalbes ring at the outer limit of corneal epithelium on the inner corneal surface.6 Observed neurologic findings include poorly developed gyri, agenesis of the corpus callosum, obstructive hydrocephalus and narrow cranio cervical junction.2, 4, 5 Dermatological findings have included hypertrichosis and hyperpigmented zones along Blashkos lines.2

To our knowledge biliary anomalies have not previously been described in MSS. In general, polypoid gallbladder masses are uncommon in infancy and childhood.7 The comet tails seen on the sonograms of this patient are characteristic of adenomyomatosis, but because this condition is asymptomatic no pathological proof is available to confirm our diagnosis.

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References

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Authors and Affiliations

  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. Marshall–Smith syndrome. J Perinatol 35, 307–309 (2015). https://doi.org/10.1038/jp.2014.224

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