Thumb Agenesis, Short Stature, And Immunodeficiency

In Saskatchewan, Shokeir (1978) identified 3 sibships in 2 possibly related kindreds of German-Austrian extraction with a syndrome of absent thumbs, short stature with skeletal abnormalities such as unfused olecranon, and severe combined immunodeficiency. Severe chickenpox and chronic candidiasis were features. Congenital heart malformation (septal defect) also occurred in 1 kindred. Delayed puberty and anosmia were features in both males and females. Inheritance of this distinct syndrome is almost certainly autosomal recessive.