Overlap between Baller-Gerold and Rothmund-Thomson syndrome.
Megarbane, Andre a; Melki, Imad b; Souraty, Noelle a; Gerbaka, Jinane c; Ghouzzi, Vincent El d; Bonaventure, Jacky d; Mornand, Anne a; Loiselet, Jacques a
[Letter]
Clinical Dysmorphology.
9(4):303-305, October 2000.
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: 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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