Pseudoachondroplasia: A Rare Cause of Short Limbed Dwarfism

AuthorK Jagadish Kumaren
AuthorNayana Nayanaen
AuthorV G Manjunathen
AuthorChandrashekar Shettyen
Issued Date2017-02-28en
AbstractPseudoachondroplasia is a rare type of short-limbed skeletal dysplasia. It is usually found as an autosomal dominant inheritable disorder. Children are normal at birth and they present developmental delay in walking by the age of 2, an abnormal waddling gait or deformities of the lower limb. Diagnosis is based on characteristic clinical and radiological findings. This study reports on a 6-year-old boy with classical features of pseudoachondroplasia.en
DOIhttps://doi.org/10.5812/compreped.39867en
KeywordPseudoachondroplasiaen
KeywordShort Limbed Dwarfen
KeywordSkeletal Surveyen
PublisherBrieflandsen
TitlePseudoachondroplasia: A Rare Cause of Short Limbed Dwarfismen
TypeCase Reporten

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