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[Schwartz-Jampel syndrome. Report of two cases and review of the literature (author's transl)]. 1980

A Plasencia, and R Alpera, and E Borrajo, and C I Fernández, and F Martínez-Huguet

Two cases of Schwartz-Jampel syndrome are reported in addition to the 30 described previously. Authors present a study on the incidence of different signs and symptoms in all cases reviewed by them and on the radiological, biochemical, electromyographic, immunological and pathologic findings of all these cases concluding that the definitive data, present in all of them, is the association of facial dysmorphia, osteomuscular dystrophy and a muscular syndrome of myotonic aspect.

UI MeSH Term Description Entries
D008297 Male Males
D009122 Muscle Hypertonia Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES. Hypermyotonia,Muscular Hypertonicity,Hypertonia, Detrusor Muscle,Hypertonia, Infantile,Hypertonia, Neonatal,Hypertonia, Sphincter,Hypertonia, Transient,Muscle Tone Increased,Detrusor Muscle Hypertonia,Detrusor Muscle Hypertonias,Hypermyotonias,Hypertonia, Muscle,Hypertonias, Detrusor Muscle,Hypertonias, Infantile,Hypertonias, Muscle,Hypertonias, Neonatal,Hypertonias, Sphincter,Hypertonias, Transient,Hypertonicities, Muscular,Hypertonicity, Muscular,Increased, Muscle Tone,Infantile Hypertonia,Infantile Hypertonias,Muscle Hypertonia, Detrusor,Muscle Hypertonias,Muscle Hypertonias, Detrusor,Muscular Hypertonicities,Neonatal Hypertonia,Neonatal Hypertonias,Sphincter Hypertonia,Sphincter Hypertonias,Tone Increased, Muscle,Transient Hypertonia,Transient Hypertonias
D009133 Muscular Atrophy Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation. Atrophy, Muscle,Neurogenic Muscular Atrophy,Neurotrophic Muscular Atrophy,Atrophies, Muscle,Atrophies, Muscular,Atrophies, Neurogenic Muscular,Atrophies, Neurotrophic Muscular,Atrophy, Muscular,Atrophy, Neurogenic Muscular,Atrophy, Neurotrophic Muscular,Muscle Atrophies,Muscle Atrophy,Muscular Atrophies,Muscular Atrophies, Neurogenic,Muscular Atrophies, Neurotrophic,Muscular Atrophy, Neurogenic,Muscular Atrophy, Neurotrophic,Neurogenic Muscular Atrophies,Neurotrophic Muscular Atrophies
D009135 Muscular Diseases Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE. Muscle Disorders,Myopathies,Myopathic Conditions,Muscle Disorder,Muscular Disease,Myopathic Condition,Myopathy
D001847 Bone Diseases Diseases of BONES. Bone Disease,Disease, Bone,Diseases, Bone
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D005145 Face The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw. Faces
D005260 Female Females
D006618 Hip Dislocation, Congenital Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral head from the true acetabulum. This condition occurs in approximately 1 in 1000 live births and is more common in females than in males. Hip Dysplasia, Congenital,Congenital Dysplasia Of The Hip,Congenital Hip Dislocation,Congenital Hip Displacement,Congenital Hip Dysplasia,Dislocation Of Hip, Congenital,Dislocation, Congenital Hip,Displacement, Congenital Hip,Dysplasia, Congenital Hip,Hip Displacement, Congenital,Hip Dysplasia, Congenital, Nonsyndromic,Hip, Dislocation Of, Congenital,Congenital Hip Dislocations,Congenital Hip Displacements,Congenital Hip Dysplasias,Dislocations, Congenital Hip,Displacements, Congenital Hip,Dysplasias, Congenital Hip,Hip Dislocations, Congenital,Hip Displacements, Congenital,Hip Dysplasias, Congenital

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