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
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
Multiple Epiphyseal Dysplasia: A Clinical and Molecular Genetic Study [PDF]
Multiple epiphyseal dysplasia (MED) is one of the most common osteochondrodysplasias [Wynne-Davies and Gormley 1985]. During childhood and adolescence it affects the epiphyses of the tubular bones, resulting in axial deformities and shorter limbs.·Later ...
Mourik, J.B.A. (Jan) van
core +1 more source
Genetic disorders of the skeleton: a developmental approach [PDF]
Although disorders of the skeleton are individually rare, they are of clinical relevance because of their overall frequency. Many attempts have been made in the past to identify disease groups in order to facilitate diagnosis and to draw conclusions ...
Kornak, Uwe, Mundlos, Stefan
core +1 more source
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
Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene [PDF]
Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC) are similar, rare autosomal recessive osteochondrodysplasias. The radiographic features and cartilage histology in DMC and SMC are identical.
Rimoin, David L. +15 more
core +1 more source
Poul Erik Andersen's radiological work on Osteochondrodysplasias and interventional radiology
Poul Erik Andersen is a Professor and Interventional Radiologist at the University of Southern Denmark, Odense and Odense University Hospital, Denmark.
Poul Erik Andersen, Andersen, Poul Erik
core +1 more source
The Hip in Osteochondrodysplasias: General Rules for Diagnosis and Treatment
The management of hip pathology in osteochondrodysplasia (skeletal dysplasia) is complex and a multidisciplinary approach is vital. Thorough clinical assessment and knowledge of the natural history of the different disorders provides the basis for this.
B. D. Sheridan +2 more
core +1 more source

