Results 61 to 70 of about 1,547 (171)
Appendix I: International Nomenclature of Constitutional Disorders of Bone: Osteochondrodysplasias
exaly +2 more sources
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
Displasia espondilometafisaria tipo Kozlowski
La displasia espondilometafisaria Kozlowski es un tipo de displasia ósea, que está comprendida dentro de un grupo de desórdenes que afecta fundamentalmente la metáfisis de huesos tubulares, con preferencia por la columna vertebral. Está caracterizada por
Elayne Esther Santana Hernández +1 more
doaj
Background: Kashin–Beck disease (KBD) is an endemic osteoarthropathy, which occurs in children aged 3–12, with similarity to osteoarthritis (OA). Previous studies have shown significant depression symptoms in OA patients, yet no comparable research has been conducted in KBD patients. Methods: We conducted a field investigation in KBD areas in Northwest
Ye Liu +13 more
wiley +1 more source
Geometric growth of the normal human craniocervical junction from 0 to 18 years old
This research investigates the growth dynamics of the craniocervical junction (CCJ) in children. By compiling geometric models of normal skull base growth and analysing closure patterns of synchondroses and sutures, it reveals distinct developmental trajectories and covariations between CCJ bones.
Juliette Raoul‐Duval +12 more
wiley +1 more source
Abnormal skull findings in neural tube defects [PDF]
The human neural tube develops and closes during the third and fourth week after conception and is normally completed by 28 days post-conception. Malformations, knows as neural tube defects, occure, when the normal closure process fails. Several clinical
Cacciatore , Alessandro +9 more
core
Prenatal diagnosis of a lethal osteochondrodysplasia: short rib syndrome and polydactyly type I
Osteochondrodysplasias is characterized by the shortening of the long bones. There are parameters that help to identify the specific type of skeletal dysplasia, but despite technological advances the differential diagnosis between them is a challenge. It
Ana Esther Algora Hernández +3 more
doaj
Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child
Congenital adrenal hyperplasia (CAH) is a group of hereditary diseases, which are autosomal recessive. CAH occurs due to defect in one of the cortisol coding genes and often clinically presents itself with signs of androgen overproduction.
Efat Khorasani, Rahim Vakili
doaj
Osteochondrodysplasia: A Heritable Disorder
{"references": ["1. Krakow D1, Alanay Y, Rimoin LP, Lin V, Wilcox WR,", "Lachman RS, et al. Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A. 2008 Aug 1;146A(15):1917-24. 2. Krakow D, Lachman RS, Rimoin DL.
Saurabh Mishra,, GS Rai
openaire +1 more source

