Journal of Investigative Dermatology 06/2012; 132(10):2473-6. · 6.19 Impact Factor
[show abstract] [hide abstract]
ABSTRACT: Pallister-Killian syndrome (PKS; OMIM: # 601803) is a rare sporadic genetic disorder characterized by pigmentary skin changes, distinctive dysmorphology, developmental delay, and mosaicism for tetrasomy of chromosome 12p. The authors report a case of PKS in a 2-y-old boy. He had pigmentary skin changes, characteristic facial features, developmental delay and hearing loss. He had sacral and post-auricular pits in addition, which has not yet been reported. A diagnosis of PKS was suspected on the basis of the patient's clinical features. Skin fibroblast culture was done which showed mosaic tetrasomy of isochromosome 12p consistent with Pallister-Killian syndrome. This case highlights the importance of dysmorphology as a diagnostic tool for recognition and accurate genetic counseling in genetic syndromes.
The Indian Journal of Pediatrics 10/2011; 79(9):1238-40. · 0.72 Impact Factor
Neurology India 60(6):643-4. · 1.04 Impact Factor