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Published on: August 15, 2019
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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