Pseudoachondroplasia: A case report

Pseudoachondroplasia: A case report

Introduction. Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein. It is characterized by rhizomelic dwarfism, limb and vertebral deformity, joint laxity and early onset osteoarthrosis. We present t...

Full description

Bibliographic Details
Main Authors:	Radlović Vladimir, Smoljanić Željko, Radlović Nedeljko, Jakovljević Miroslav, Leković Zoran, Dučić Siniša, Pavićević Polina
Format:	Article
Language:	English
Published:	Serbian Medical Society 2013-01-01
Series:	Srpski Arhiv za Celokupno Lekarstvo
Subjects:	pseudoachondroplasia rhizomelic dwarfism osteochondrodysplasias
Online Access:	http://www.doiserbia.nb.rs/img/doi/0370-8179/2013/0370-81791310676R.pdf

Similar Items

Joint Degeneration in a Mouse Model of Pseudoachondroplasia: ER Stress, Inflammation, and Block of Autophagy
by: Jacqueline T. Hecht, et al.
Published: (2021-08-01)

Pseudoachondroplasia: Report on a South African family
by: Shahida Moosa, et al.
Published: (2013-06-01)

Pseudoachondroplasia in a child: The role of anthropometric measurements and skeletal imaging in differential diagnosis
by: Radwa Gamal, MSc, et al.
Published: (2017-03-01)

Mutant COMP shapes growth and development of skull and facial structures in mice and humans
by: Alexander Burger, et al.
Published: (2020-07-01)

Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene
by: Nabil El-Lababidi, et al.
Published: (2020-10-01)

X-linked hypophosphatemic rickets: Case report
by: Radlović Vladimir, et al.
Published: (2014-01-01)

Shoulder arthroplasty in dwarfism: A case report of pseudoachondroplasia with 17-year follow-up
by: Gregory Gasbarro, et al.
Published: (2021-04-01)

Spondylo-epiphyseal dysplacea tarda (a case report).
by: Pathare A, et al.
Published: (1991-04-01)

A new GNPAT variant of foetal rhizomelic chondrodysplasia punctata
by: Adalgisa Cordisco, et al.
Published: (2021-08-01)

Ischiofemoral impingement due to a solitary exostosis
by: J. Schatteman, et al.
Published: (2015-02-01)

Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata
by: Noriyuki Kanzawa, et al.
Published: (2012-04-01)

Recurrent aphthous stomatitis as the only clinical sign of celiac disease in obese adolescent - case report and literature review
by: Mandić Jelena, et al.
Published: (2020-01-01)

A family of Melnick-Needles syndrome: a case report
by: Chi Hoon Oh, et al.
Published: (2020-08-01)

A case report of pyknodysostosis with cleidocranial dysplasia: Computed tomography and panoramic imaging
by: Dharmraj Meena, et al.
Published: (2013-01-01)

Oral administration of a synthetic vinyl-ether plasmalogen normalizes open field activity in a mouse model of rhizomelic chondrodysplasia punctata
by: Wedad Fallatah, et al.
Published: (2020-01-01)

Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities
by: E.C.J.M. de Vet, et al.
Published: (1999-11-01)

Analysis of the cartilage proteome from three different mouse models of genetic skeletal diseases reveals common and discrete disease signatures
by: Peter A. Bell, et al.
Published: (2013-06-01)

Report of a novel mutation in the SLC26A2 gene foud in a colomian adult patient with diastrophic dysplasia
by: Tatiana Pineda, et al.
Published: (2013-07-01)

Displasia espondilometafisaria tipo Kozlowski
by: Elayne Esther Santana Hernández, et al.
Published: (2016-12-01)

Benign transient hyperphosphatasemia in children
by: Radlović Nedeljko, et al.
Published: (2020-01-01)

<it>In vitro </it>and <it>in vivo </it>plasmalogen replacement evaluations in rhizomelic chrondrodysplasia punctata and Pelizaeus-Merzbacher disease using PPI-1011, an ether lipid plasmalogen precursor
by: Wood Paul L, et al.
Published: (2011-10-01)

Diagnosis of Achondroplasia at Birth: A Case Report
by: Suzit Bhusal, et al.
Published: (2020-02-01)

Novel Mutation in Wolcott–Rallison Syndrome with Variable Expression in Two Omani Siblings
by: Siham Al-Sinani, et al.
Published: (2015-03-01)

Rare case of nephrotic syndrome: Schimke syndrome
by: Anna Kelly Krislane de Vasconcelos Pedrosa, et al.

Minor cartilage collagens:characterization of the human COL9A1, COL9A2 and COL11A2 genes and the mouse Col11a2 gene. Identification of a mutation in the COL11A2 gene in a family with non-ocular Stickler syndrome
by: Vuoristo, M. (Mirka)
Published: (2003)

A review of skeletal dysplasia research in India
by: A Uttarilli, et al.
Published: (2018-01-01)

The human COL9A3 gene:structure of the gene for the α3 chain of type IX collagen and its role in human cartilage and intervertebral disc diseases
by: Paassilta, P. (Petteri)
Published: (1999)

Coeliac disease as the cause of resistant sideropenic anaemia in children with Down's syndrome: Case report
by: Pavlović Momčilo, et al.
Published: (2010-01-01)

Influence of breastfeeding and timing of gluten introduction on the onset of celiac disease in infants
by: Mladenović Marija, et al.
Published: (2019-01-01)

Alpha-1-antitrypsin deficiency in children: Clinical characteristics and diagnosis
by: Radlović Nedeljko, et al.
Published: (2014-01-01)

Congenital Adrenal Hyperplasia and Schmid Metaphyseal Chondrodysplasia in a Child
by: Efat Khorasani, et al.
Published: (2016-01-01)

Genetic defects of collagen XI:the role of a minor cartilage collagen in chondrodysplasias, oral cleft defects and osteoarthrosis
by: Melkoniemi, M. (Miia)
Published: (2005)

Total hip arthroplasty for a patient with angel-shaped phalango-epiphyseal dysplasia (ASPED) : a case report
by: Warashina, Hideki, et al.
Published: (2002)

What is new in genetics and osteogenesis imperfecta classification?
by: Eugênia R. Valadares, et al.
Published: (2014-11-01)

Case report of acute vitamin D intoxication in an infant
by: Radlović Nedeljko, et al.
Published: (2014-01-01)

A Child with Seckel Syndrome and Arterial Stenosis: Case Report and Literature Review
by: Saeidi M, et al.
Published: (2020-05-01)

Clinical features of non-classical celiac disease in children and adolescents
by: Radlović Nedeljko, et al.
Published: (2021-01-01)

Case report of Ellis-Van Creveld syndrome
by: Baghdadi T, et al.
Published: (2001-09-01)

Rotavirus gastroenteritis as a precipitating factor of celiac crisis in infancy: Case reports and review of literature
by: Leković Zoran, et al.
Published: (2021-01-01)

Acute diarrhea in children
by: Radlović Nedeljko, et al.
Published: (2015-01-01)

Cannot write session to /tmp/vufind_sessions/sess_flut6bcit3ge9qo7ohmph3bq44