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Overlap between Baller-Gerold and Rothmund-Thomson syndrome.

Abstract : We report a male patient with craniosysnostosis, bilateral radial and ulnar hypoplasia, absent thumbs, poikiloderma, and short stature. His parents are first cousins. Although this patient was originally diagnosed as having Baller-Gerold syndrome it is more likely that he has Rothmund-Thomson syndrome or a similar disorder. This report confirms the overlap between these two syndromes, and that Baller-Gerold syndrome is essentially a diagnosis of exclusion.
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https://hal.archives-ouvertes.fr/hal-02342811
Contributor : Vincent El Ghouzzi Connect in order to contact the contributor
Submitted on : Friday, November 1, 2019 - 12:59:03 PM
Last modification on : Tuesday, May 17, 2022 - 2:58:11 PM

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  • HAL Id : hal-02342811, version 1
  • PUBMED : 11045594

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A. Megarbane, Imad Melki, N Souraty, J Gerbaka, V El Ghouzzi, et al.. Overlap between Baller-Gerold and Rothmund-Thomson syndrome.. Clinical Dysmorphology, Lippincott, Williams & Wilkins, 2000, 9 (4), pp.303-5. ⟨hal-02342811⟩

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