Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?
A syndrome is described in three isolated patients in whom the main features are bilateral radial aplasia, short stature, an inflammatory based 'elastic' pyloric stenosis, a pan-enteric inflammatory gut disorder that appears to be due to an autoimmune process, and poikiloderma. Other features in individual cases include cleft palate, micrognathia, anal atresia, patellar aplasia/hypoplasia and sensorineural deafness. This combination may represent a severe form of Rothmund-Thomson syndrome or possibly a previously unrecognized condition.
Hilhorst-Hofstee
Y
Y
Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK.
Shah
N
N
Atherton
D
D
Harper
J I
JI
Milla
P
P
Winter
R M
RM
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001327:Autoimmune Diseases / Q000175:diagnosis*; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004760:Enterocolitis / Q000175:diagnosis* / Q000276:immunology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010329:Patella / Q000002:abnormalities; D011707:Pyloric Stenosis / Q000175:diagnosis; D011884:Radius / Q000002:abnormalities*; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis*