Pseudoachondroplasia (PSACH) is a type of short-limbed dwarfism, deriving its name from phenotypic similarity to achondroplasia. It is characterized by normal facies, short-limbed dwarfism, joint laxity, and epiphyseal and metaphyseal abnormalities in the growing child.
KeywordsPreimplantation Genetic Diagnosis Cartilage Oligomeric Matrix Protein Cartilage Oligomeric Matrix Protein Atlantoaxial Dislocation Multiple Epiphyseal Dysplasia
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