| Osteogenesis Imperfecta Type VII |
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Some cases of OI Type VII resemble OI Type IV in many aspects of appearance and symptoms.
Other cases resemble OI Type II, except that infants have white sclerae, small heads and round faces.
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It is common for leg bones, humerus and femur to be short.
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Short stature is common.
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Coxa vara is common.
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OI Type VII results from recessive inheritance of a mutation in the CRTAP gene. Partial (10%) expression of CRTAP leads to moderate bone dysplasia. Total absence of the cartilage-associated protein has been lethal in all identified cases.
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| Osteogenesis Imperfecta Type VIII |
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Cases of OI Type VIII are similar to OI Types II or III in appearance and symptoms except for white sclerae.
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OI Type VIII is characterized by severe growth deficiency and extreme under-mineralization of the skeleton.
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It is caused by absence or severe deficiency of prolyl 3-hydroxylase activity due to mutations in the LEPRE1 gene.
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