King syndrome: a genetically heterogenous phenotype due to congenital myopathies.

doi:10.1002/ajmg.1320430610

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Article

King syndrome: a genetically heterogenous phenotype due to congenital myopathies.

American journal of medical genetics - 1 Aug 1992

Chitayat D, Hodgkinson K A, Ginsburg O, Dimmick J, Watters G V

Abstract excerpt

We report on a patient with myopathy, kyphoscoliosis, joint contractures, and a facial appearance consistent with King syndrome. Unlike other reported cases, our patient had hyperextensible joints, normal stature, and pectus excavatum. The cardiac ventricles, aorta, and pulmonary artery were dila...

Topics

Child
Contracture
Face
Humans
Joint Diseases
Male
Malignant Hyperthermia
Muscular Diseases
Phenotype
Scoliosis
Syndrome

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