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1987 1
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Page 1
Skeletal dysplasias: 38 prenatal cases.
Witters I, Moerman P, Fryns JP. Witters I, et al. Genet Couns. 2008;19(3):267-75. Genet Couns. 2008. PMID: 18990981
Specific diagnoses included: achondroplasia (n = 6), achondrogenesis (n = 2), osteogenesis imperfecta type II (n = 9), osteogenesis imperfecta type I (n = 1), osteogenesis imperfecta type III (n = 1), thanatophoric dysplasia (n = 7), hypophosphatasia ( …
Specific diagnoses included: achondroplasia (n = 6), achondrogenesis (n = 2), osteogenesis imperfecta type II (n = 9), osteogenesis imperfec …
SURGICAL MANAGEMENT OF RETINAL DETACHMENT IN OSTEOGENESIS IMPERFECTA: CASE REPORT AND REVIEW OF THE LITERATURE.
Fleissig E, Barak A. Fleissig E, et al. Retin Cases Brief Rep. 2019 Winter;13(1):43-46. doi: 10.1097/ICB.0000000000000527. Retin Cases Brief Rep. 2019. PMID: 28085759 Review.
METHODS: Single interventional case report of a 37-year-old woman, with clinically diagnosed osteogenesis imperfecta Type III, presenting with an inferior retinal detachment of the right eye. ...
METHODS: Single interventional case report of a 37-year-old woman, with clinically diagnosed osteogenesis imperfecta Type …
Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.
Steinlein OK, Aichinger E, Trucks H, Sander T. Steinlein OK, et al. BMC Med Genet. 2011 Nov 22;12:152. doi: 10.1186/1471-2350-12-152. BMC Med Genet. 2011. PMID: 22107750 Free PMC article.
BACKGROUND: Mutations in the FKBP10 gene were first described in patients with Osteogenesis imperfecta type III. Two follow up reports found FKBP10 mutations to be associated with Bruck syndrome type 1, a rare disorder characterized by congenital contr …
BACKGROUND: Mutations in the FKBP10 gene were first described in patients with Osteogenesis imperfecta type III. …
Stapes surgery in osteogenesis imperfecta: results of a new series.
van der Rijt AJ, Cremers CW. van der Rijt AJ, et al. Otol Neurotol. 2003 Sep;24(5):717-22. doi: 10.1097/00129492-200309000-00004. Otol Neurotol. 2003. PMID: 14501445
In one other patient, revision surgery resulted in only marginal improvement in the hearing level. In one case of, probably, osteogenesis imperfecta type III, surgery resulted in a dead ear. CONCLUSION: Stapedotomy successfully improved the hearing of …
In one other patient, revision surgery resulted in only marginal improvement in the hearing level. In one case of, probably, osteogenesis …
Surgical Treatment of Bilateral Tibia Deformity in a 9-Year-Old Child Suffering from Osteogenesis Imperfecta Type III: A Case Report.
Delniotis I, Leidinger B. Delniotis I, et al. Am J Case Rep. 2019 Oct 21;20:1540-1550. doi: 10.12659/AJCR.918560. Am J Case Rep. 2019. PMID: 31631172 Free PMC article.
CASE REPORT A 9-year-old child (male) was referred to our orthopedic clinic for inability to walk independently due to extreme anterior bowing of both tibias. After the diagnosis of osteogenesis imperfecta type III was established, bilateral surgical t …
CASE REPORT A 9-year-old child (male) was referred to our orthopedic clinic for inability to walk independently due to extreme anterior bowi …
Fetal biometry of skeletal dysplasias: a multicentric study.
Goncalves L, Jeanty P. Goncalves L, et al. J Ultrasound Med. 1994 Dec;13(12):977-85. doi: 10.7863/jum.1994.13.12.977. J Ultrasound Med. 1994. PMID: 7877211
Fetuses who had over 80% of the mean for gestational age had predominantly hypochondroplasia, achondroplasia, and osteogenesis imperfecta type III....
Fetuses who had over 80% of the mean for gestational age had predominantly hypochondroplasia, achondroplasia, and osteogenesis imp …
Fetal biometry of skeletal dysplasias: a multicentric study.
Goncalves L, Jeanty P. Goncalves L, et al. J Ultrasound Med. 1994 Oct;13(10):767-75. doi: 10.7863/jum.1994.13.10.767. J Ultrasound Med. 1994. Corrected and republished in: J Ultrasound Med. 1994 Dec;13(12):977-85. doi: 10.7863/jum.1994.13.12.977. PMID: 7880297 Corrected and republished. Clinical Trial.
Fetuses who had over 80% of the mean for gestational age had predominantly hypochondroplasia, achondroplasia, and osteogenesis imperfecta type III....
Fetuses who had over 80% of the mean for gestational age had predominantly hypochondroplasia, achondroplasia, and osteogenesis imp …
15 results