22q11.2 deletion syndrome

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

Short philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.


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PMID (PMCID)
686795
 FEMALE Infant
Successful restoration of immunity in the DiGeorge syndrome with fetal thymic epithelial transplant.
Thong YH, Robertson EF, Rischbieth HG, Smith GJ, Binns GF, Cheney K, Pollard AC.
Arch Dis Child. 1978;53(7):580-4.
Other features of the DiGeorge syndrome included hypertelorism, short philtrum of the lip, right-sided aortic arch, and aberrant origin of the left subclavian artery.