Results 41 to 50 of about 12,084,964 (131)
Mechanisms of Lung Injury in a Mouse Model of Bronchopulmonary Dysplasia [PDF]
, 2009 Bronchopulmonary dysplasia (BPD) is a chronic lung disease that affects preterm infants. Increased levels of inflammatory mediators in the amniotic fluid and in the lungs of preterm infants are associated with the development of BPD.
Hogmalm, Anna
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Acta Obstetricia et Gynecologica Scandinavica, Volume 104, Issue 4, Page 604-614, April 2025.Our study suggests that exome sequencing adds approximately 60% of the diagnostic yield in fetuses with skeletal abnormalities reported in previous literature. The dysplasia phenotypes had a higher incremental yield, whereas the dysostoses group according to this study had a relatively lower yield, especially in the isolated dysostoses group.
Yan Wang +6 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 13, Issue 1, January 2025.ABSTRACT Background Skeletal dysplasia (SD) represents a series of highly heterogeneous congenital genetic diseases affecting the human skeletal system. Refined genetic diagnosis is helpful for the accurate diagnosis and prognosis evaluation of SDs.
Li‐min Cui +12 more
wiley +1 more source
, 2013 Purpose A diagnostic feature of focal cortical dysplasia (FCD) type II on magnetic resonance imaging (MRI) is increased subcortical white matter (WM) signal on T2 sequences corresponding to hypomyelination, the cause of which is unknown.
Martinian, L. +7 more
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Prenatal Diagnosis, Volume 45, Issue 1, Page 77-88, January 2025.ABSTRACT Objective This study aims to assess the diagnostic value of post‐mortem radiographic imaging compared with prenatal ultrasound in suspected fetal skeletal dysplasias in a large Finnish cohort. Method Prenatal ultrasound findings and their association with post‐mortem radiographic imaging were evaluated in a cohort of 36 fetuses with prenatally
Katri Rajala +4 more
wiley +1 more source
Thanatophoric dysplasia: a case report [PDF]
, 2019 Thanatophoric Dysplasia (TD) is a congenital, sporadic and most lethal skeletal dysplasia caused by new mutation in FGFR3 gene. Authors report such a rare case of a term alive baby with dysmorphic features, born to an unbooked, 40 years old G4P3+0 with ...
Sharma, Astha +5 more
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Type-i Thanatophoric Dysplasia: Unraveling A Lethal Skeletal Disorder
, 2015 Type-I Thanatophoric Dysplasia is an uncommon and severe skeletal disorder characterized by abnormal bone development, leading to a lethal outcome shortly after birth.
Hariprasad, A. (A)
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Thanatophoric dysplasia: Antenatal to postmortem
, 2015 Thanatophoric dwarfism (TD), literally meaning death seeking dwarf, is the most common form of lethal bone dysplasia characterized by severe micromelia, extra folds of skin and narrow chest.
Chanabasappa V Chavadi +4 more
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, 2016 A thanatophoric dysplasia type I case with a FGFR3 p.R248C mutation and survival beyond the neonatal period: Thanatophoric dysplasia, is a severe congenital anomaly which mostly causes stillbirth or death of the affected baby within hours due to ...
Sahin, S. +6 more
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, 2002 Skeletal dysplasias, a heterogeneous group of bone growth disorders, can be detected by routine prenatal ultrasound examination. As it is difficult to make a specific diagnosis, prediction of prognosis is of importance for obstetric management.
Kölble N +8 more
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