Overlap between Baller-Gerold and Rothmund-Thomson syndrome

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 mas 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. Clin Dysmorphol 9:303-305 (C) 2000 Lippincott Williams & Wilkins.