Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings.

Abstract

Pyknodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, deformity of the skull, osteosclerosis, hypoplasia of the clavicle, and bone fragility. Radiographs show increased bone density, osteosclerosis, and acroosteolysis of the terminal phalanges. The pycnodysostosis gene is located on chromosome 1q21 and encodes an enzyme called Cathepsin K. Cathepsin K is a cysteine protease lysosomal protein associated with the degradation of bone and cartilage. In the current study, the authors described the clinical, radiological and molecular features of a group of six Mexican patients, including two familial and two sporadic cases, with Pyknodysostosis. One of the patients presented hypoacusia, an unusual finding in this disease.

• Authors: Margarita Valdes-Flores, Alberto Hidalgo-Bravo, L Casas-Avila, Carmen Chima-Galan, Eric J Hazan-Lasri, Ernesto Pineda-Gomez, Druso Lopez-Estrada, Juan C Zenteno
• Journal: International journal of clinical and experimental medicine (Int J Clin Exp Med) Vol. 7 Issue 11 Pg. 3915-23 ( 2014) ISSN: 1940-5901 [Print] United States
• PMID: 25550899 (Publication Type: Journal Article)