Metatropic Dysplasia with a Novel Mutation in TRPV4.

ABSTRACT

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