Pallister-Killian syndrome comprises mental retardation, multiple congenital anomalies, short limbs and a coarse facies. The condition results from isochromosome 12p mosaicism.
KeywordsRetinitis Pigmentosa Severe Mental Retardation Multiple Congenital Anomaly Progressive External Ophthalmoplegia Autosomal Recessive Trait
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© Springer-Verlag London Limited 1997