@article{ajmsm2015342,
author={{Raj, Rajnish and Raj, Anuradha and Raj, Rakesh Tilak},
title={Goltz Syndrome with Mild Intellectual Disability and Excoriation (Skin-picking) - A Case Report},
journal={American Journal of Medical Sciences and Medicine},
volume={3},
number={4},
pages={48--51},
year={2015},
url={http://pubs.sciepub.com/ajmsm/3/4/2},
issn={2327-6657},
abstract={<b>Background:</b> Goltz syndrome is a rare X-linked genetic syndrome of PORCN gene abnormality. It occurs predominantly in females while showing lethality for males. Most of the cases reported in the literature are bilateral with developmental defects in skin, skeletal, dentition, ocular and soft tissue. <b>Case Presentation: </b>Ms. X, 18-year old unmarried short statured female presented with symptoms of mild intellectual disability and excoriation, ocular colobomas, skin lesions, malocclusion of dentition, syndactyly, facial asymmetry and low set ears. <b>Conclusion:</b> This case is reported due to its rarity and highlights the importance of the psychiatric evaluation in detecting mild intellectual disability along with excoriation (skin-picking) in a characteristic Goltz syndrome.},
doi={10.12691/ajmsm-3-4-2}
publisher={Science and Education Publishing}
}