Wiskott Aldrich syndrome presenting as congenital thrombocytopenia.
The application of molecular biology to haematology has provided the opportunity to revisit previous diagnoses, many of which can now be redefined. This report is on a local family previously diagnosed and published as having X-linked thrombocytopenia in 1974, and shows how the application of molecular screening has confirmed the true diagnosis of Wiskott Aldrich syndrome.
Lawson
S E
SE
Birmingham Children's Hospital, Birmingham, and King's Healthcare NHS Trust, London. isaac.lawson@btinternet.com
Thompson
L
L
Williams
M D
MD
D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D013921:Thrombocytopenia / Q000151:congenital* / Q000175:diagnosis*; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis*; D014960:X Chromosome