Rapadilino syndrome--a non-Finnish case.
We report on a boy with RAPADILINO syndrome. Including this report seven children with this syndrome have been described. The patient developed a poikilodermatous skin rash, suggesting overlap with the Rothmund-Thompson syndrome.
Kant
S G
SG
Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
Baraitser
M
M
Milla
P J
PJ
Winter
R M
RM
D000015:Abnormalities, Multiple / Q000473:pathology*; D003967:Diarrhea / Q000150:complications; D005512:Food Hypersensitivity / Q000150:complications; D006130:Growth Disorders / Q000150:complications; D006801:Humans; D007223:Infant; D007360:Intelligence; D004204:Joint Dislocations / Q000150:complications; D017880:Limb Deformities, Congenital / Q000473:pathology; D008297:Male; D009666:Nose / Q000002:abnormalities; D010159:Palate / Q000002:abnormalities; D010329:Patella / Q000002:abnormalities; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities