From genotype to phenotype: the impact of early management in pycnodysostosis

From genotype to phenotype: the impact of early management in pycnodysostosis

Summary: Pycnodysostosis (PYCD) is an osteosclerotic skeletal dysplasia caused by mutations in the CTSK gene. We describe four cases, highlighting their clinical progression and therapeutic responses. Case 1 is a 2-year-old girl with non-consanguineous parents exhibiting short stature (Z-score: −3.2...

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Bibliographic Details
Main Authors: Paulo Rafael Gonçalves da Silva Von Zuben, Sophia Zuppo de Sousa, Carolina Costa Figueiredo, Nara Michelle de Araújo Evangelista, Vânia Tonetto Fernandes, Patricia Salmona, Guido de Paula Colares Neto
Format: Article
Language:English
Published: Bioscientifica 2025-07-01
Series:Endocrinology, Diabetes & Metabolism Case Reports
Subjects:
pycnodysostosis
children
height
bisphosphonates
growth hormone
Online Access:https://edm.bioscientifica.com/view/journals/edm/2025/3/EDM-25-0025.xml
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