An Indian boy with additional features in Pallister-Killian syndrome.
Indian J Pediatr
; 79(9): 1238-40, 2012 Sep.
Article
em En
| MEDLINE
| ID: mdl-22012142
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Transtornos Cromossômicos
Limite:
Child, preschool
/
Humans
/
Male
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article