Overlap between Baller-Gerold and Rothmund-Thomson syndrome.

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.

• Authors: A Mégarbané, I Melki, N Souraty, J Gerbaka, V El Ghouzzi, J Bonaventure, A Mornand, J Loiselet
• Journal: Clinical dysmorphology (Clin Dysmorphol) Vol. 9 Issue 4 Pg. 303-5 (Oct 2000) ISSN: 0962-8827 [Print] England
• PMID: 11045594 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)

Topics

• Abnormalities, Multiple (pathology)
• Body Height
• Craniosynostoses (pathology)
• Humans
• Infant, Newborn
• Male
• Radius (pathology)
• Rothmund-Thomson Syndrome (pathology)
• Syndrome
• Ulna (pathology)