Nail-Patella Syndrome: A Case Report:

Proceedings of Singapore Healthcare

Annie Hui NeeLaw¹ 

关键词: Cleft lip;    Cleft palate;    Dystrophic nails;    LMX1B gene;   

DOI  :  10.1177/201010581302200111

学科分类：医学（综合）

来源: Sage Journals

【 摘 要 】

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.

【 授权许可】

CC BY