...Eran Ashwal; Jonathan Sgro; Patrick Shannon; Karen Chong; Phyllis Glanc; David Chitayat Introduction: To determine lung hypoplasia in cases with fetal skeletal dysplasia based on the total lung weight at autopsy as the most accountable surrogate marker for pulmonary hypoplasia. Methods...

...Elizabeth J. Snyder; Julie S. Moldenhauer; Teresa Victoria Skeletal dysplasias (SDs) are a heterogeneous group of heritable disorders that affect development of bone and cartilage. Because each SD is individually rare and because of the heterogeneity within and among disorders, prenatal diagnosis...

... to in the content or advertisements. 2022 Bruck syndrome Congenital heart disease Skeletal dysplasia PLOD2 Prenatal fractures Bruck syndrome is characterized by multiple joint contractures, bone fragility, and fractures. There are 2 known genes responsible for Bruck syndrome, FKBP10...

...Teresa Victoria; Naseem U. Shakir; Savvas Andronikou; J. Christopher Edgar; Pauline Germaine; Monica Epelman; Ann M. Johnson; Diego Jaramillo Background: The prenatal evaluation of skeletal dysplasias is challenging. Ultrasound (US) has limited sensitivity in evaluating these abnormalities. Low...

.... Thanatophoric dysplasia Skeletal dysplasia Nuchal translucency FGFR 3 gene Fetal Diagn Ther 2008;24:71 73 DOI: 10.1159/000132411 Received: March 6, 2007 Accepted after revision: May 7, 2007 Published online: May 27, 2008 A Case of Thanatophoric Dysplasia: The Early Prenatal 2D and 3D Sonographic Findings...

... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Prenatal diagnosis Lethal multiple pterygium syndrome Chen syndrome Diaphragmatic hernia Polyhydramnios Skeletal dysplasia Fetal Diagn Ther 1998;13:35 38 Received...