Metatropic dysplasia with a novel mutation in TRPV4

Dhanya Lakshmi Narayanan, Gandham Sri Lakshmi Bhavani, Katta Mohan Girisha, Shubha R. Phadke

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)735-737
Number of pages3
JournalIndian Pediatrics
Volume53
Issue number8
DOIs
Publication statusPublished - 01-08-2016

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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