Article
Pallister-Killian Syndrome (PKS) as a Cause of Mental Retardation.
Klinische Padiatrie - 1 Jan 2000
Shamdeen A, Meyer S, Gottschling S, Oehl-Jaschkowitz B, Gortner L, Shamdeen M G
Abstract excerpt
Pallister-Killian syndrome (PKS; OMIM: # 601803) is a rare sporadic syndrome of multiple congenital anomalies attributable to the presence of a de novo mosaic supernumerary isochromosome 12p [i(12p)]. The syndrome presents with a recognizable pattern of findings including: pigmentary skin changes, characteristic facial features (sparse anterior scalp hair, flattened midface, macrostomia, and coarsening of the...
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