Case Reports
doi: 10.1097/00019605-200009040-00018.
Overlap between Baller-Gerold and Rothmund-Thomson syndrome
- PMID: 11045594
- DOI: 10.1097/00019605-200009040-00018
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Case Reports
Overlap between Baller-Gerold and Rothmund-Thomson syndrome
Clin Dysmorphol.
2000 Oct.
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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