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Knist's syndrome


Knist's syndrome (it is described by the German pediatrician of W. Kniest; a synonym – a metatropny dysplasia, type II) – the hereditary disease which is characterized by a set a malformation.

Symptoms of the Syndrome of Knist:

Disproportionate dwarfism since the birth is noted; extremities are shortened at the expense of proximal departments; long tubular bones are shortened and bent; joints are increased, tugopodvizhna that leads to contractures; fingers of brushes long with rigidity in interphalangeal joints owing to what patients cannot squeeze a brush in a fist; hyperlordosis and kyphoscoliosis; clubfoot; the typical person with a hypertelorism (widely placed eyes), an exophthalmos (eyeglobe shift forward out of eye-socket limits), the flattened nose bridge, a macrostomia (a big mouth); the myopia of high degree which is often complicated by retina amotio; the carrying-out and neurosensory deafness; the sky crevice, inguinal and umbilical hernias are frequent. Speech and motor development are slowed down, children late start walking and experience difficulties when walking; the intelligence usually does not suffer. At X-ray inspection find flattening of bodies of vertebrae; the shortened long tubular bones with the short flattened epiphysis, the expanded, unevenly rarefied metaphyses; the shortened and expanded pelvic bones with a delay of ossification of heads of femurs; expansion and exhaustion of bones of a brush.

Внешний вид больной с синдромом Книста

Outward of the patient with Knist's syndrome

Reasons of the Syndrome of Knist:

Mode of inheritance – presumably autosomal and dominant.

Treatment of the Syndrome of Knist:

Treatment only siptomatichesky.

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