Metatropic dysplasia with a novel mutation in TRPV4

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2 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)735-737
Number of pages3
JournalIndian Pediatrics
Issue number8
Publication statusPublished - 01-08-2016

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health


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