Affiliation:
1. The University of Rochester School of Medicine and Dentistry, Rochester
Abstract
1. A genetic and orthopaedic analysis of a family of seventy members exhibiting the nail-patella syndrome is described. 2. The disorder is found to be determined by a simple dominant autosomal gene with complete penetrance, but displaying variable expressivity and great pleomorphism. 3. In the family reported all ten of the affected individuals whose blood was typed belonged to group O, demonstrating the adjacent chromosomal position of the nail-patella gene and the ABO blood group locus. 4. The pathogenesis is one of hypoplasia of the nail beds, but hyperplasia in mesodermal tissue as shown by the formation of iliac horns. 5. The skeletal changes are ascribed to a functional disturbance in the development of the traction epiphyses rather than to a primary teratogenic effect.
Publisher
British Editorial Society of Bone & Joint Surgery
Subject
Orthopedics and Sports Medicine,Surgery
Cited by
33 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Other Dysplasias in the Shoulder Girdle;Congenital and Acquired Deformities of the Pediatric Shoulder Girdle;2022
2. Nail-patella syndrome;Orthopaedics and Trauma;2009-10
3. Congenital Anomalies and Variational Anatomy of the Shoulder;Rockwood and Matsen’s The Shoulder;2009
4. Orthopaedic-Related Syndromes;Tachdjian's Pediatric Orthopaedics;2008
5. Congenital Knee Deformities;The Pediatric and Adolescent Knee;2006