Metatropic dwarfism

TRPV4 is a mechanically activated Ca(2+)-passing channel implicated in the sensing of forces, including those acting on bones. To… (More)

Recent discoveries have established the existence of a family of skeletal dysplasias caused by dominant mutations in TRPV4. This… (More)

BACKGROUND Mutations in TRPV4, a gene that encodes a Ca(2+) permeable non-selective cation channel, have recently been found in a… (More)

Metatropic dysplasia is a clinical heterogeneous skeletal dysplasia characterized by short extremities, a short trunk with… (More)

The spondylometaphyseal dysplasias (SMDs) are a group of short-stature disorders distinguished by abnormalities in the vertebrae… (More)

We present a case of prenatal diagnosis of severe metatropic dysplasia at 20 weeks' gestation. The characteristic prenatal… (More)

Metatropic dwarfism is a rare heritable skeletal dysplasia that is thought to result from a defect in endochondral ossification… (More)

Two infants with clinical and radiologic features of metatropic dwarfism presented in the neonatal period with episodes of… (More)

The clinical and radiological manifestations of a lethal case of metatropic dwarfism are presented. Two radiological signs… (More)

Two brothers are described with identical features of short-limbed dwarfism, normal face, hands and feet, respiratory… (More)