Results 11 to 20 of about 1,394 (123)

Genetic Disorders of Bone or Osteodystrophies of Jaws—A Review

Global Medical Genetics, 2021
Bone is a specialized form of connective tissue, which is mineralized and made up of approximately 28% type I collagen and 5% noncollagenous matrix proteins.
Sirisha Vammi, Jaya Lakshmi Bukyya, Anulekha Avinash CK, M. L. Avinash Tejasvi, Archana Pokala, Chanchala HP, Priyanka Talwade, Praveen Kumar Neela, T. K. Shyamilee, Mary Oshin, Veenila Pantala   +10 more
doaj   +1 more source

When parathyroid adenoma meets osteopathia striata, rarest amalgam of bony dysplasia with brown tumors: a case report

The Egyptian Journal of Radiology and Nuclear Medicine, 2023
Background Osteopathia is a benign entity characterized by linear densities along the diaphysis and metaphysis of the longitudinal axes of the long bone.
Moinuddin Sultan, Rituja Chauhan, Abhijeet Shukla, Padma Badhe   +3 more
doaj   +1 more source

Anesthesia for a patient of acromesomelic dysplasia with associated hydrocephalus, Arnold Chiari malformation and syringomyelia

Journal of Anaesthesiology Clinical Pharmacology, 2013
Acromesomelic dysplasias are autosomal recessive osteochondrodysplasias. Acromesomelic dysplasia Maroteaux-type (AMDM), also known as St Helena dysplasia, is of two types: The classical and the mild variety. About 50 cases of AMDM have been reported till
Rudrashish Haldar, Prakhar Gyanesh, Sukhen Samanta   +2 more
doaj   +1 more source

Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review

Journal of Pediatrics Review, 2015
Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this study was to familiarize physicians with this rare but important disease.
Kobra Shiasi Arani
doaj   +3 more sources

Rare case of nephrotic syndrome: Schimke syndrome

Brazilian Journal of Nephrology
Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia.
Anna Kelly Krislane de Vasconcelos Pedrosa, Luiz Fernando Oliveira Torres, Ana Corina Brainer Amorim da Silva, Adrianna Barros Leal Dantas, Káthia Liliane da Cunha Ribeiro Zuntini, Lia Cordeiro Bastos Aguiar   +5 more
doaj   +1 more source

Síndrome de Grebe. Reporte de un caso. [Grebe syndrome. Case report.]

Revista de la Asociación Argentina de Ortopedia y Traumatología, 2018
La condrodisplasia de Grebe es un trastorno raro autosómico recesivo que pertenece al grupo de las osteocondrodisplasias. Clínicamente se caracteriza por un severo dismorfismo con una marcada micromelia y deformidad de las extremidades inferiores y ...
Jessica Andrea Suárez Zarrate, Ricardo Arias Arguello, Sebastián Rodríguez Serna   +2 more
doaj   +1 more source

Prenatal Diagnosis of Cartilage-Hair Hypoplasia: A Narrative Review

Acta Médica Portuguesa
Cartilage-hair hypoplasia is a rare autosomal recessive skeletal dysplasia. It is particularly prevalent in the Finnish and Amish populations but increasing reports have been documented worldwide. It is caused by pathogenic variants in the RMRP gene. The
Catarina Portela Carvalho, Inês Alves, Carolina Lemos, Luís Guedes-Martins   +3 more
doaj   +1 more source

Influencing factors for physiological genu varum in children [PDF]

精准医学杂志
Objective To investigate the influencing factors for physiological genu varum in children. Methods A total of 68 children with physiological genu varum who were diagnosed in Department of Child Healthcare in our hospital from November 2019 to November ...
ZHAO Huijuan, YI Mingji, SHAN Yanchun, WANG Yanxia, YANG Zhaochuan, MA Liang
doaj   +1 more source

Diagnóstico pré-natal de displasia camptomélica: relato de caso Prenatal diagnosis of camptomelic dysplasia: a case report

Revista Brasileira de Ginecologia e Obstetrícia, 2008
A displasia camptomélica pertence a um grupo heterogêneo e raro de displasias esqueléticas letais, que se caracterizam pelo desenvolvimento anormal dos ossos e das cartilagens.
Tadeu Coutinho, Conrado Milani Coutinho, Larissa Milani Coutinho   +2 more
doaj   +1 more source

Hand Radiographs in Skeletal Dysplasia: A Pictorial Review

Indian Journal of Radiology and Imaging
Skeletal dysplasias or osteochondrodysplasias comprise a large heterogeneous group of genetic disorders and possess significant overlap on imaging, which adds to the dilemma of the reporting radiologist.
Dheeksha D. S., Stuti Chandola, Aayush Jain, Neerja Gupta, Madhulika Kabra, Manisha Jana   +5 more
doaj   +1 more source