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Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity.
Am J Med Genet. 1986 Mar; 23(3):821-32.AJ

Abstract

The existence of a rare form of osteogenesis imperfecta, OI type III, has been postulated. This is characterized by autosomal recessive inheritance with neonatal manifestations of bone fragility or deformability. It is usually nonlethal. Studies of some 345 pedigrees of OI in the last 8 years confirm that patients falling into this group are rare. They should be distinguished as a special group within the group of OI subjects with a progressively deforming OI phenotype delineated in previous publications [Sillence et al, 1979a, b]. The OI type III phenotype does not necessarily equate with progressively deforming OI, and probably only a proportion of cases with severe deformity and normal sclerae have OI type III. On the other hand, distinction between these patients and those with a milder form of perinatally lethal OI type II might be difficult. Whereas the natural history of skeletal deformity and fractures in patients with OI type III has certain similarities, variable severity between families indicates that OI type III is likely to be genetically heterogeneous.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

3953678

Citation

Sillence, D O., et al. "Osteogenesis Imperfecta Type III. Delineation of the Phenotype With Reference to Genetic Heterogeneity." American Journal of Medical Genetics, vol. 23, no. 3, 1986, pp. 821-32.
Sillence DO, Barlow KK, Cole WG, et al. Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet. 1986;23(3):821-32.
Sillence, D. O., Barlow, K. K., Cole, W. G., Dietrich, S., Garber, A. P., & Rimoin, D. L. (1986). Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. American Journal of Medical Genetics, 23(3), 821-32.
Sillence DO, et al. Osteogenesis Imperfecta Type III. Delineation of the Phenotype With Reference to Genetic Heterogeneity. Am J Med Genet. 1986;23(3):821-32. PubMed PMID: 3953678.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity. AU - Sillence,D O, AU - Barlow,K K, AU - Cole,W G, AU - Dietrich,S, AU - Garber,A P, AU - Rimoin,D L, PY - 1986/3/1/pubmed PY - 1986/3/1/medline PY - 1986/3/1/entrez SP - 821 EP - 32 JF - American journal of medical genetics JO - Am J Med Genet VL - 23 IS - 3 N2 - The existence of a rare form of osteogenesis imperfecta, OI type III, has been postulated. This is characterized by autosomal recessive inheritance with neonatal manifestations of bone fragility or deformability. It is usually nonlethal. Studies of some 345 pedigrees of OI in the last 8 years confirm that patients falling into this group are rare. They should be distinguished as a special group within the group of OI subjects with a progressively deforming OI phenotype delineated in previous publications [Sillence et al, 1979a, b]. The OI type III phenotype does not necessarily equate with progressively deforming OI, and probably only a proportion of cases with severe deformity and normal sclerae have OI type III. On the other hand, distinction between these patients and those with a milder form of perinatally lethal OI type II might be difficult. Whereas the natural history of skeletal deformity and fractures in patients with OI type III has certain similarities, variable severity between families indicates that OI type III is likely to be genetically heterogeneous. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/3953678/Osteogenesis_imperfecta_type_III__Delineation_of_the_phenotype_with_reference_to_genetic_heterogeneity_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1986&volume=23&issue=3&spage=821 DB - PRIME DP - Unbound Medicine ER -