OST EOGENESIS IMPERFACTA: REPORT OF A NEW PEDIGREE IN IRAN

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FARHOUD D.; MOHAMADI-ASI J.; DERAKHSHANDEH P.

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Journal: Iranian Journal of Pediatrics Year:2002 | Volume:12 | Issue:2 Page(s): 12-15

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Title

OST EOGENESIS IMPERFACTA: REPORT OF A NEW PEDIGREE IN IRAN

Author(s)

FARHOUD D. | MOHAMADI-ASI J. | DERAKHSHANDEH P. | Issue Writer Certificate

Keywords

OSTEOGENESIS IMPERFECTAQ4

COLLAGEN ANOMALYQ4

GENETIC DISEASEQ4

IRANQ2

Abstract

OSTEOGENESIS IMPERFECTA is a heterogeneous genetically disorder and is inherited as an autosomal dominant or outosomal recessive trait. The primary defect lies in the mutation of genes that encode type 1 collagen. Organs bearing connective tissue such as bone, sclera, inner ear, skin, ligaments, tendons, and fasciae are involved. With respect to clinical, biochemical and inheritance characteristics, this disorder is divided into 4 groups (Ol l, Ol ll, Ol lll, and Ol lV). The clinical feature consists of mainly fragile bones with or without blue sclerae and deafness. In report an 8- year old boy is presented with or a pedigree suggesting an autosomal recessive type of inheritance in whom with respect to clinical feature, osteogenesis type llB is diagnosed.

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APA: Copy

FARHOUD, D., MOHAMADI-ASI, J., & DERAKHSHANDEH, P.. (2002). OST EOGENESIS IMPERFACTA: REPORT OF A NEW PEDIGREE IN IRAN. IRANIAN JOURNAL OF PEDIATRICS, 12(2), 12-15. SID. https://sid.ir/paper/76042/en

Vancouver: Copy

FARHOUD D., MOHAMADI-ASI J., DERAKHSHANDEH P.. OST EOGENESIS IMPERFACTA: REPORT OF A NEW PEDIGREE IN IRAN. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2002;12(2):12-15. Available from: https://sid.ir/paper/76042/en

IEEE: Copy

D. FARHOUD, J. MOHAMADI-ASI, and P. DERAKHSHANDEH, “OST EOGENESIS IMPERFACTA: REPORT OF A NEW PEDIGREE IN IRAN,” IRANIAN JOURNAL OF PEDIATRICS, vol. 12, no. 2, pp. 12–15, 2002, [Online]. Available: https://sid.ir/paper/76042/en

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