Aortic Elastin Abnormalities in Osteogenesis Imperfecta Type II

1986 ◽  
Vol 6 (5) ◽  
pp. 409-421 ◽  
Author(s):  
I. Pasquali-Ronchetti ◽  
D. Quaglino ◽  
M. Baccarani-Contra ◽  
R. Tenconi ◽  
G.M. Bressan ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Type Ii

Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

1984 ◽  
Vol 17 (2) ◽  
pp. 407-423 ◽  
Author(s):  
D. O. Sillence ◽  
K. K. Barlow ◽  
A. P. Garber ◽  
J. G. Hall ◽  
D. L. Rimoin
Keyword(s):  
Osteogenesis Imperfecta ◽  
Genetic Heterogeneity ◽  
Osteogenesis Imperfecta Type ◽  
Type Ii

Osteogenesis imperfecta type II: prenatal sonographic diagnosis.

Radiology ◽  
1990 ◽  
Vol 174 (1) ◽  
pp. 181-185 ◽  
Author(s):  
C Munoz ◽  
R A Filly ◽  
M S Golbus
Keyword(s):  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Type Ii ◽  
Sonographic Diagnosis

A Case of Osteogenesis Imperfecta Type II Caused by a Novel COL1A2 Gene Mutation: Endoscopic Third Ventriculostomy to Prevent Hydrocephalus

2012 ◽  
Vol 43 (04) ◽  
pp. 225-228
Author(s):  
Yasuo Hachiya ◽  
Masaharu Hayashi ◽  
Takashi Negishi ◽  
Soh Atsumi ◽  
Masaya Kubota ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Gene Mutation ◽  
Endoscopic Third Ventriculostomy ◽  
Third Ventriculostomy ◽  
Osteogenesis Imperfecta Type ◽  
Type Ii ◽  
Col1a2 Gene

Case report: Pulmonary hypoplasia and osteogenesis imperfecta type II with defective synthesis of alpha I(1) procollagen

Bone ◽  
1989 ◽  
Vol 10 (3) ◽  
pp. 165-171 ◽  
Author(s):  
J.R. Shapiro ◽  
V.E. Burn ◽  
S.D. Chipman ◽  
J.B. Jacobs ◽  
B. Schloo ◽  
...  
Keyword(s):  
Case Report ◽  
Osteogenesis Imperfecta ◽  
Pulmonary Hypoplasia ◽  
Osteogenesis Imperfecta Type ◽  
Type Ii

scholarly journals Osteogenesis imperfecta: a literature review and a clinical case of a perinatal-lethal type of disease

2021 ◽  
pp. 226-234
Author(s):  
L. Ya. Klimov ◽  
T. M. Vdovina ◽  
V. A. Pechenkina ◽  
T. V. Zhelezniakova ◽  
I. N. Zakharova ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Osteogenesis Imperfecta ◽  
Dna Sequence ◽  
Clinical Case ◽  
Dna Sequence Analysis ◽  
Heterozygous Mutation ◽  
Osteogenesis Imperfecta Type ◽  
Type Ii ◽  
Col1a1 Gene

The article presents the modern views of clinicians and geneticists on one of the most severe genetic disorders of skeletal and connective tissues - osteogenesis imperfecta. The review provided the literature data that showed the incidence rates, genetic heterogeneity of osteogenesis imperfecta, as well as the role of some proteins involved in the construction of bone tissue, as well as a clinical classification of the main types of the disorder. The authors described a clinical case: a girl with typical clinical and radiological manifestations of the rarest of all types of osteogenesis imperfecta - type II (perinatal-lethal, congenital osteogenesis imperfecta, Vrolik’s syndrome). The child’s diagnosis was verified by a parallel DNA sequence analysis which showed a heterozygous mutation in exon 29 (c.1966G> A) of COL1A1 gene not previously described in the literature. It caused the substitution of glycine for serine at position 656. The role of antenatal diagnostics and the importance of medical genetic counselling of the family before planning the next pregnancy due to the existing risk of re-birth of a sick child is outlined. Due to the fact that majority of the patients with the most prognostically unfavourable type II osteogenesis imperfecta, as a rule, die in utero, the described case of observation of the girl with typical clinical and X-ray signs of the disorder for almost 3 months of postpartum period is extremely rare and highly indicative. The detection of the heterozygous mutation in exon 29 (c.1966G > A) of COL1A1 gene by a parallel DNA sequence analysis which was not previously described in the literature gives an additional significance to the described observation.

scholarly journals Osteogenesis Imperfecta Type II: Two autopsy cases

2000 ◽  
Vol 10 (2) ◽  
pp. 82-87
Author(s):  
Fatma Nur Aktaş ◽  
Güzide Gül ◽  
Seyit Kaya ◽  
Işın Özeren ◽  
Bilge Kançeker ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Osteogenesis Imperfecta Type ◽  
Type Ii
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