Tay or IBIDS syndrome. A case with growth and mental retardation, congenital ichthyosis and brittle hair.
A new, Swedish case with Tay or IBIDS syndrome is presented. The boy had growth and mental retardation, congenital ichthyosis and brittle hair. He was the only child in an uncle-niece marriage. The boy suffered recurrent infections and died at the age of 3 years from pneumonia. Clinical data on 15 cases are presented from a study of the literature.
Blomquist
H K
HK
Department of Paediatrics, University Hospital, Umeå, Sweden.
Bäck
O
O
Fagerlund
M
M
Holmgren
G
G
Stecksén-Blicks
C
C
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D003241:Consanguinity; D006130:Growth Disorders / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007057:Ichthyosis / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D010375:Pedigree