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Osteogenesis imperfecta with dominant inheritance and normal sclerae.
J Bone Joint Surg Br. 1983 Jan; 65(1):35-9.JB

Abstract

Most patients with dominantly inherited osteogenesis imperfecta have blue sclerae and relatively mild symptoms. However, in a small group of families the patients have normal sclerae and this disorder has been classified as Type 4 osteogenesis imperfecta. This paper reports the clinical and radiographical features of 48 patients from 16 families with Type 4 osteogenesis imperfecta and compares the findings with those of the classical disorder with blue sclerae (Type 1 osteogenesis imperfecta). The two types are similar in usually causing a mild disease but with a wide range of severity, and in both types the rate of fracture declines in adolescence. There are, however, some significant differences apart from the colour of the sclerae. In Type 4 the first fracture more commonly occurs at birth, dentinogenesis imperfecta is more frequent than in Type 1 and bruising and nose-bleeds are less common. As in Type 1, the radiographic appearances of the bones may be normal. It is important that Type 4 osteogenesis imperfecta should be recognised because of the need for competent genetic counselling, because the management may be different from that appropriate for Type 1 and because it may be mistaken for idiopathic juvenile osteoporosis or child abuse.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

6822598

Citation

Paterson, C R., et al. "Osteogenesis Imperfecta With Dominant Inheritance and Normal Sclerae." The Journal of Bone and Joint Surgery. British Volume, vol. 65, no. 1, 1983, pp. 35-9.
Paterson CR, McAllion S, Miller R. Osteogenesis imperfecta with dominant inheritance and normal sclerae. J Bone Joint Surg Br. 1983;65(1):35-9.
Paterson, C. R., McAllion, S., & Miller, R. (1983). Osteogenesis imperfecta with dominant inheritance and normal sclerae. The Journal of Bone and Joint Surgery. British Volume, 65(1), 35-9.
Paterson CR, McAllion S, Miller R. Osteogenesis Imperfecta With Dominant Inheritance and Normal Sclerae. J Bone Joint Surg Br. 1983;65(1):35-9. PubMed PMID: 6822598.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Osteogenesis imperfecta with dominant inheritance and normal sclerae. AU - Paterson,C R, AU - McAllion,S, AU - Miller,R, PY - 1983/1/1/pubmed PY - 1983/1/1/medline PY - 1983/1/1/entrez SP - 35 EP - 9 JF - The Journal of bone and joint surgery. British volume JO - J Bone Joint Surg Br VL - 65 IS - 1 N2 - Most patients with dominantly inherited osteogenesis imperfecta have blue sclerae and relatively mild symptoms. However, in a small group of families the patients have normal sclerae and this disorder has been classified as Type 4 osteogenesis imperfecta. This paper reports the clinical and radiographical features of 48 patients from 16 families with Type 4 osteogenesis imperfecta and compares the findings with those of the classical disorder with blue sclerae (Type 1 osteogenesis imperfecta). The two types are similar in usually causing a mild disease but with a wide range of severity, and in both types the rate of fracture declines in adolescence. There are, however, some significant differences apart from the colour of the sclerae. In Type 4 the first fracture more commonly occurs at birth, dentinogenesis imperfecta is more frequent than in Type 1 and bruising and nose-bleeds are less common. As in Type 1, the radiographic appearances of the bones may be normal. It is important that Type 4 osteogenesis imperfecta should be recognised because of the need for competent genetic counselling, because the management may be different from that appropriate for Type 1 and because it may be mistaken for idiopathic juvenile osteoporosis or child abuse. SN - 0301-620X UR - https://www.unboundmedicine.com/medline/citation/6822598/Osteogenesis_imperfecta_with_dominant_inheritance_and_normal_sclerae_ L2 - http://www.diseaseinfosearch.org/result/5451 DB - PRIME DP - Unbound Medicine ER -