title: Metatropic Dysplasia with a Novel Mutation in TRPV4.
abstract: BACKGROUND
  Metatropic dysplasia is a skeletal dysplasia characterized by rhizomelia, severe kyphoscoliosis and a coccygeal tail.
  
  
  METHODS
  A 12 day-old male neonate had facial dysmorphism, short limbs and coccygeal tail and showed radiological features of metatropic dysplasia.
  
  
  METHODS
  A novel heterozygous variant was observed in TRPV4 gene.
  
  
  CONCLUSIONS
  We report a novel mutation in an Indian neonate with metatropic dysplasia.
authors: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow; and #Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal; India. Correspondence to: Dr Shubha Phadke, Professor and Head, Department of Medical genetics, Sanjay Gandhi Post graduate Institute, Lucknow 226 010, Uttar Pradesh, India. shubharaophadke@gmail.com.
authors: Dhanya Lakshmi
authors: DL
authors: Narayanan
authors: Gandham SriLakshmi
authors: GS
authors: Bhavani
authors: Katta Mohan
authors: KM
authors: Girisha
authors: Shubha R
authors: SR
authors: Phadke
mesh_terms: D004392:Dwarfism / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D012445:Sacrococcygeal Region / Q000473:pathology; D050916:TRPV Cation Channels / Q000235:genetics*
chemical_list: D050916:TRPV Cation Channels; C416986:TRPV4 protein, human