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Osteoarticular Manifestations of Prolidase Deficiency and Disability: Case Reports of Two Moroccan Sisters
Prolidase deficiency (PD) is a rare autosomal recessive disorder that has symptoms such as chronic skin ulcers, dysmorphic facies, cognitive retardation, hematological anomalies, splenomegaly, and chronic infections. Bone and joint abnormalities were referred occasionally and included the signs and...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8502436/ https://www.ncbi.nlm.nih.gov/pubmed/34660074 http://dx.doi.org/10.7759/cureus.17875 |
Sumario: | Prolidase deficiency (PD) is a rare autosomal recessive disorder that has symptoms such as chronic skin ulcers, dysmorphic facies, cognitive retardation, hematological anomalies, splenomegaly, and chronic infections. Bone and joint abnormalities were referred occasionally and included the signs and symptoms of prolidase deficiency, but were not deeply investigated in PD patients. We report a case of two PD Moroccan sisters with osteoarticular deformities, some of them were never described before: toes deformities and equinovalgus with fusion and dislocation of a tarsal bone in radiography x-rays. |
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