Open AccessNovel TRPV 4 variant causes a severe form of metatropic dysplasia
Author(s) -
Graversen Lise,
Haagerup Annette,
Andersen Brian N.,
Petersen Karin K.,
Gjørup Vibike,
Gudmundsdottir Gudrun,
Vogel Ida,
Gregersen Pernille A.
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1598
Subject(s) - medicine , frontal bossing , missense mutation , dysplasia , anatomy , thorax (insect anatomy) , appendage , pathology , genetics , mutation , biology , gene
Key Clinical Message We present a girl born with a frontal bossing, short neck, bell‐shaped thorax, short limbs with prominent joints, and a tail‐like coccygeal appendage. Genetic screening of TRPV4 identified a novel de novo heterozygous missense variant. We believe the variant causes the severe form of metatropic dysplasia in this patient.