Open AccessPseudoachondroplasia: A Rare Cause of Short Limbed Dwarfism
Author(s) -
K. Jagadish Kumar,
Nayayana,
V. G. Manjunath,
Chandrashekar Shetty
Publication year - 2017
Publication title -
journal of comprehensive pediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.154
H-Index - 8
eISSN - 2251-8177
pISSN - 2251-8150
DOI - 10.5812/compreped.39867
Subject(s) - dwarfism , medicine , pediatrics , dysplasia , anatomy , pathology , genetics , biology , gene
Pseudoachondroplasia 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