Journal
CLINICAL DYSMORPHOLOGY
Volume 9, Issue 4, Pages 303-305Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/00019605-200009040-00018
Keywords
autosomal recessive; Baller-Gerold syndrome; craniosynostosis; poikiloderma; radial hypoplasia; Rothmund-Thomson syndrome
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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 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.
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