Overlap between Baller-Gerold and Rothmund-Thomson syndrome.

  title={Overlap between Baller-Gerold and Rothmund-Thomson syndrome.},
  author={Andr{\'e} M{\'e}garban{\'e} and Imad G. Melki and No{\"e}lle Souraty and J. Gerbaka and Vincent El Ghouzzi and Jaques Bonaventure and A Mornand and Jacques Loiselet},
  journal={Clinical dysmorphology},
  volume={9 4},
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.