1. Nail-Patella Syndrome: A Case Report
- Author
-
Li Ching Chew and Annie Hui Nee Law
- Subjects
inorganic chemicals ,LMX1B gene ,medicine.medical_specialty ,Lung ,business.industry ,lcsh:R ,technology, industry, and agriculture ,lcsh:Medicine ,Autosomal dominant trait ,General Medicine ,Anatomy ,respiratory system ,medicine.disease ,Dermatology ,medicine.anatomical_structure ,mental disorders ,Medicine ,business ,Dystrophic nails ,health care economics and organizations ,Nail patella syndrome - Abstract
Nail-patella syndrome (NPS), also known as hereditary onycho-osteodystrophy (HOOD) is a rare inherited autosomal dominant disease with involvement of the LMX1 gene. We report a case of NPS with atypical involvement of the lip, palate, and lung and discuss the possible genetic associations between NPS, recurrent pneumothoraces, and cleft lip/palate.
- Published
- 2013
- Full Text
- View/download PDF