Hearing Loss Linked to Low Bone Density in Women

2021 ◽  
Vol 2021 ◽  
pp. 1-6
Author(s):  
Parminder Kaur ◽  
Inusha Panigrahi ◽  
Harleen Kaur ◽  
Thakurvir Singh ◽  
Chakshu Chaudhry

Osteopetrosis is a disorder characterized by high bone density, hepatosplenomegaly, visual and hearing loss, and anemia. Pycnodysostosis presents with short stature, acroosteolysis, and dense bones. We, hereby, present here a family with autosomal dominant osteopetrosis and also children with recessive osteopetrosis and pycnodysostosis. The molecular confirmation was done in 3 cases. Genetic heterogeneity in clinical presentation is discussed here. Further studies will help in identifying epigenetic alterations and population-specific variants and also developing targeted therapies.


2017 ◽  
Vol 167 (12) ◽  
pp. 904 ◽  
Author(s):  
Mary Ann Forciea ◽  
Robert M. McLean ◽  
Amir Qaseem

2011 ◽  
Vol 26 (8) ◽  
pp. 1891-1903 ◽  
Author(s):  
Anna Rufo ◽  
Andrea Del Fattore ◽  
Mattia Capulli ◽  
Francesco Carvello ◽  
Loredana De Pasquale ◽  
...  

Author(s):  
Lisa Swartz Topor ◽  
Patrice Melvin ◽  
Courtney Giancaterino ◽  
Catherine M Gordon

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