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Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger

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Abstract

We report a 4-year-old boy with sclerosteosis associated with severe digital dysostosis. The initial medical consultation was prompted by bilateral, asymmetrical syndactyly of the index and middle fingers. The left index finger had complicated phalangeal anomalies: hyperphalangy (supernumerary phalanx distal to the middle phalanx) and hypoplasia with bracket epiphyses of the proximal and middle phalanges. Development of facial nerve palsy, hearing impairment and generalized osteosclerosis had occurred between 3 years and 4 years of age, with the subsequent identification of a homozygous SOST mutation. Bilateral second and third fingers syndactyly associated with abnormal patterning of the same fingers should be considered prodromal signs of sclerosteosis.

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Acknowledgements

We cordially thank the patient and his family for participating in this study, and Professor Jürgen Spranger and Professor Christine Hall for their thoughtful comments.

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Authors and Affiliations

  1. Division of Genetic Research, Tokyo Metropolitan Children’s Medical Center, 2-8-29 Musashidai, Fuchuu-shi, Tokyo, 183-8561, Japan

    Hiroko Yagi & Yukihiro Hasegawa

  2. Division of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Fuchuu-shi, Japan

    Masaki Takagi & Yukihiro Hasegawa

  3. Medical Genetics Department, İstanbul Medical Faculty, İstanbul University, İstanbul, Turkey

    Hülya Kayserili

  4. Division of Radiology, Tokyo Metropolitan Children’s Medical Center, Fuchuu-shi, Japan

    Gen Nishimura

Authors
  1. Hiroko Yagi
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  2. Masaki Takagi
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  3. Yukihiro Hasegawa
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  4. Hülya Kayserili
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  5. Gen Nishimura
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Correspondence to Hiroko Yagi.

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Yagi, H., Takagi, M., Hasegawa, Y. et al. Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger. Pediatr Radiol 45, 1239–1243 (2015). https://doi.org/10.1007/s00247-015-3292-1

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  • DOI: https://doi.org/10.1007/s00247-015-3292-1

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