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 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.
Mégarbané
A
A
Melki
I
I
Souraty
N
N
Gerbaka
J
J
El Ghouzzi
V
V
Bonaventure
J
J
Mornand
A
A
Loiselet
J
J
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