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DiGeorge's syndrome

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A condition characterised by abnormality of the thymus, parathyroids and great vessels arising from developmental failure of the third and fourth pharyngeal pouches. It is associated with facial deformity (ears, nose and mouth), hypoparathyroidism, and frequent infections (to which resistance is low), due to lack of T cell lymphocytes. B cell lymphocytes are present in normal numbers and immunoglobulin levels may be normal. Most infants die from infections, cardiovascular defects or seizures within the first few months or second year of life. Patients who survive infancy are usually mentally retarded. The syndrome is twice as common males as in females. Most cases are sporadic, but it also occurs as autosomal recessive, autosomal dominant, and X-linked traits.

The sequence was first described by Wilhelm Wernstedt (born 1872), professor of paediatrics and Dean of Karolinska Institutet – the Royal Caroline Institute – in Stockholm, and E. Böttiger, in 1927.


  • E. Böttiger, W. Wernstedt:
    Tödlich verlaufender Fall von Spasmophilie bei einem Brustkinde mit Anomalien des Thymus und des Parathyreoidea.
    Acta pædiatrica Scandinavica, Stockholm, 1927, 6: 373-382.
  • A. M. DiGeorge:
    Discussions on a new concept of the cellular basis of immunity.
    Journal of Pediatrics, St. Louis, 1965, 67: 907-908.
  • A. M. DiGeorge:
    Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism.
    Birth Defects Original Article Series, New York, 1968, Series IV (I): 116-121.

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