Abstract
Metatropic dysplasia is a skeletal dysplasia characterized by rhizomelia, severe kyphoscoliosis and a coccygeal tail. A 12 day-old male neonate had facial dysmorphism, short limbs and coccygeal tail and showed radiological features of metatropic dysplasia. A novel heterozygous variant was observed in TRPV4 gene. We report a novel mutation in an Indian neonate with metatropic dysplasia.
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