Metatropic Dysplasia with a Novel Mutation in TRPV4

Dhanya Lakshmi Narayanan; Gandham SriLakshmi Bhavani; Katta Mohan Girisha; Shubha R Phadke

doi:10.1007/s13312-016-0921-1

Metatropic Dysplasia with a Novel Mutation in TRPV4

Indian Pediatr. 2016 Aug 8;53(8):735-7. doi: 10.1007/s13312-016-0921-1.

Authors

Dhanya Lakshmi Narayanan¹, Gandham SriLakshmi Bhavani, Katta Mohan Girisha, Shubha R Phadke

Affiliation

¹ 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. [email protected].

PMID: 27567651
DOI: 10.1007/s13312-016-0921-1

Abstract

Background: 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.

Publication types

Case Reports

MeSH terms

Dwarfism* / diagnosis
Dwarfism* / genetics
Dwarfism* / pathology
Humans
Infant, Newborn
Male
Mutation / genetics
Osteochondrodysplasias* / diagnosis
Osteochondrodysplasias* / genetics
Osteochondrodysplasias* / pathology
Sacrococcygeal Region / pathology
TRPV Cation Channels / genetics*

Substances

TRPV Cation Channels
TRPV4 protein, human

Supplementary concepts

Metatropic dwarfism