Abstract
The radiographic features of acromesomelic dysplasia are presented, along with a summary of pertinent clinical features. They are thought to allow a diagnosis in affected individuals over six months of age. Since the condition has an autosomal recessive mode of genetic transmission and results in extremely short stature, the establishment of the diagnosis has practical importance.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Abnormalities, Multiple / diagnostic imaging
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Adolescent
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Adult
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Age Factors
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Body Height
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Bone Diseases, Developmental / diagnostic imaging*
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Bone Diseases, Developmental / genetics
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Bone Diseases, Developmental / pathology
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Bone and Bones / diagnostic imaging*
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Bone and Bones / pathology
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Child
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Child, Preschool
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Extremities / diagnostic imaging*
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Extremities / pathology
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Genes, Recessive
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Humans
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Infant
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Infant, Newborn
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Radiography
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Spine / diagnostic imaging
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Spine / pathology