Abstract
In a 4 year old girl the diagnosis osteogenesis imperfecta type I was suspected by following clinical criteria: four fractures after small trauma, intensive blue sclera, anomalies of dental enamel, macrocephalie with frontal bassing. Clinical diagnosis could be verified by moleculargenetic analysis, a newly recognized heterozygous point mutation (Arg420Stop) in the COL1A1-gene was found.
MeSH terms
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Ankle Injuries / diagnosis
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Ankle Injuries / genetics
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Child, Preschool
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Codon / genetics
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Collagen Type I / genetics*
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Collagen Type I, alpha 1 Chain
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Cytosine / metabolism
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DNA Mutational Analysis
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Diagnosis, Differential
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Female
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Femoral Fractures / diagnosis
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Femoral Fractures / genetics
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Follow-Up Studies
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Fractures, Spontaneous / diagnosis
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Fractures, Spontaneous / genetics
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Genetic Carrier Screening
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Humans
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Infant
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Infant, Newborn
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Osteogenesis Imperfecta / diagnosis
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Osteogenesis Imperfecta / genetics*
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Point Mutation / genetics*
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Thymine / metabolism
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Tibial Fractures / diagnosis
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Tibial Fractures / genetics
Substances
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Codon
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Collagen Type I
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Collagen Type I, alpha 1 Chain
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Cytosine
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Thymine