title: 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.forename: A
authors.initials: A
authors.lastname: Mégarbané
authors.forename: I
authors.initials: I
authors.lastname: Melki
authors.forename: N
authors.initials: N
authors.lastname: Souraty
authors.forename: J
authors.initials: J
authors.lastname: Gerbaka
authors.forename: V
authors.initials: V
authors.lastname: El Ghouzzi
authors.forename: J
authors.initials: J
authors.lastname: Bonaventure
authors.forename: A
authors.initials: A
authors.lastname: Mornand
authors.forename: J
authors.initials: J
authors.lastname: Loiselet
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001827:Body Height; D003398:Craniosynostoses / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011884:Radius / Q000473:pathology; D011038:Rothmund-Thomson Syndrome / Q000473:pathology; D013577:Syndrome; D014457:Ulna / Q000473:pathology