Zobrazeno 1 - 10
of 78
pro vyhledávání: '"Osteogenesis Imperfecta Type II"'
Publikováno v:
American Journal of Medical Genetics Part A. 182:2994-2998
We report clinical and radiological features of a patient born with an isolated skull malformation of caput membranaceum and partial bicoronal craniosynostosis with a novel, de novo heterozygous missense variant in ZIC1 [NM_003412.3:c.1183C>G, p.(Pro
Publikováno v:
Advances in clinical and experimental medicine : official organ Wroclaw Medical University. 30(6)
Skeletal dysplasias are a heterogeneous group of congenital bone and cartilage disorders with a genetic etiology. The current classification of skeletal dysplasias distinguishes 461 diseases in 42 groups. The incidence of all skeletal dysplasias is m
Publikováno v:
Journal of Evidence Based Medicine and Healthcare, Vol 6, Iss 13, Pp 1105-1108 (2019)
PRESENTATION OF CASE A 20-year-old pregnant female came to our department for routine antenatal ultrasound in her first gravida at 20 weeks of gestation. There was no history of consanguineous marriage. There was no past history of miscarriage. There
Autor:
Sidhartha Tan, David Bryant, Susan Berman, Maheshwar Mahaseth, Salam Zeineddine, Sunil Jaiman, Edgar Hernandez-Andrade, Ali Alhousseini
Publikováno v:
Gynecologic and Obstetric Investigation. 84:204-208
Background: We discuss the ethical decision points in a case report that describes a novel COL1A1 mutation associated to Osteogenesis Imperfecta type II, but with a non-lethal outcome. Case: A 33-year-old female underwent a 21-week ultrasound that re
Publikováno v:
Bone Abstracts.
Autor:
Elizabeth L. Wiley, Christopher A. Enakpene, Steven Garzon, Valerie Lindgren, Nasma K Majeed, Diana M. Oramas, Rajyasree Emmadi
Publikováno v:
Fetal and pediatric pathology. 38(3)
Osteogenesis imperfect (OI) type II is a genetic disorder of bone characterized by bone fragility, multiple fractures, severe bowing and shortening of long bones, and perinatal death due to respiratory insufficiency. It is mainly caused by mutations
Autor:
Steven M. Twidwell, Kelsy L. Fisher
Publikováno v:
Journal of Diagnostic Medical Sonography. 32:155-158
A case of skeletal dysplasia was sonographically evaluated in the fetus of a 21-year-old patient. The diagnosis of osteogenesis imperfecta type II was suggested during a routine morphological examination at 17 weeks’ gestation, based on visualizati
Publikováno v:
Case Reports in Perinatal Medicine. 5:45-48
We present the case of a 34-year-old woman with a prenatally diagnosed osteogenesis imperfecta type II of one fetus of a diamniotic-dichorionic twin pregnancy at 28 weeks and 2 days of gestation. The diagnosis was suspected after a routine ultrasound
Publikováno v:
Journal of Perinatal Medicine, 46, 5, pp. 523-529
Journal of Perinatal Medicine, 46, 523-529
Journal of Perinatal Medicine, 46, 523-529
Aim: Preterm birth is the world’s leading cause of neonatal death. Unfortunately, the pathophysiology of preterm birth remains poorly understood. Sjögren-Larsson syndrome is a rare, neurometabolic disorder caused by a fatty aldehyde dehydrogenase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5368bf9b490f5e0db010307df482092
https://doi.org/10.1515/jpm-2017-0187
https://doi.org/10.1515/jpm-2017-0187
Autor:
Kayoko Saito, Yayoi Kawamichi, Tomonobu Hasegawa, Gen Nishimura, Hideo Matsui, Masaki Takagi, Yoshika Akizawa, Yoshio Matsuda
Publikováno v:
Congenital Anomalies. 52:203-206
We report a case of osteogenesis imperfecta (OI) (OMIM166210) type II, in which a prenatal diagnosis was made by three-dimensional computed tomography (3D-CT). Subsequent molecular analysis revealed a recurrent, heterozygous mutation in COL1A2. Fetal