Unusual case of XXY Klinefelter's syndrome with pancreatic insufficiency, hypothyroidism, deafness, chronic lung disease, dwarfism and microcephaly

Johanson‐Blizzard syndrome: Clinical spectrum and further delineation of the syndrome

“…2 in this report]. Three patients had recurrent lung infections [Grand et al, 1966;Schussheim et al, 1976;Day and Israel, 19781 and 4 patients had erythematous maculopapular rash [Grand et al, 1966;Schussheim et al, 1976;Sismanis et al, 1979;Moeschler et al, 19871. Autosomal recessive transmission in JBS has been established. There is no sex predilection.…”

A Case of XYY Syndrome with Short Stature.

“…Individuals with Kleinfelter's syndrome are usually tall with long extremities, but there have been some conflicting reports describing such patients with short stature [4,5]. Chromosomal disproportion may play a role in the characterization of his short stature [6].…”

Johanson‐Blizzard syndrome in a large inbred kindred with three involved members

“…Johanson & Blizzard (1971) cited a patient with an XXY chromosomal composition who also had pancreatic insufficiency, hypothyroidism, microcephaly, deafness and dwarfism (Grand et al 1966) as a possible forme fruste of the syndrome. This may be the case, but, while Johanson & Blizzard described the alae nasi of this patient as hypoplastic, the authors (Grand et al 1966) stated that the nose was slender but otherwise normal, and the pictures published do not resolve this issue. Many of the other features of that patient, with the exception of pancreatic insufficiency and shortness of stature, occur in XXY individuals.…”