Novel TRPV4 variant causes a severe form of metatropic dysplasia.

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.

Citation

Lise Graversen, Annette Haagerup, Brian N Andersen, Karin K Petersen, Vibike Gjørup, Gudrun Gudmundsdottir, Ida Vogel, Pernille A Gregersen. Novel TRPV4 variant causes a severe form of metatropic dysplasia. Clinical case reports. 2018 Sep;6(9):1774-1778

PMID: 30214761

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