Results 11 to 20 of about 1,547 (171)

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
Sukhen Samanta, Rudrashish Haldar, Prakhar Gyanesh   +2 more
core   +2 more sources

Ultrastructural aspects of osteochondrodysplasias

, 1990
The literature on osteochondrodysplasias is voluminous and a multitude of conflicting classifications has developed over the years. Eponyms proliferated and identical syndromes were described under multiple headings, whereas dissimilar disorders were treated as one. Even the newest methods of investigation frequently fail to reveal clear-cut boundaries
Ernesto Ippolito, Jerry A. Maynard, Angiola Pedrini-Mille, Vittorio Pedrini   +3 more
openaire   +2 more sources

Prevalence of lethal osteochondrodysplasias

American Journal of Medical Genetics, 1990
Cobben, J. M., Cornel, M. C., Dijkstra, I., Ten Kate, L. P.   +3 more
core   +6 more sources

Spondyloenchondrodysplasia: a rare cause of short stature

The Turkish Journal of Pediatrics, 2011
Skeletal dysplasias (osteochondrodysplasias) are a group of diseases that must be included in the differential diagnosis of disproportionate short stature.
ÇİZMECİOĞLU JONES, FİLİZ MİNE, Ozsu, Elif, Hatun, Sukru, ALANAY, Yasemin, Yesiltepe-Mutlu, Gul   +4 more
core   +3 more sources

Novel Genetic Findings in Stuve-Wiedemann Syndrome: A Case Report and Review of Literature. [PDF]

Clin Case Rep
ABSTRACT Stuve‐Wiedemann Syndrome (SWS) is a rare autosomal recessive condition, first reported in 1971 by Stuve and Wiedemann. It is associated with pathogenic or likely pathogenic homozygous or compound heterozygous variants in the Leukemia Inhibitory Factor Receptor (LIFR) gene.
Hamasharef KH, Najmadden ZB, AKhailany R, Rashid MJ, Hamakarim K.   +4 more
europepmc   +2 more sources

Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report. [PDF]

Mol Genet Genomic Med
A novel COL9A3 splice‐site variant was identified in a 14‐year‐old male misdiagnosed with juvenile idiopathic arthritis, confirming multiple epiphyseal dysplasia and emphasizing molecular testing as the key to unlocking accurate diagnosis in genetically heterogeneous skeletal disorders.
Alnuaimi B, Miranda V, Sbrocchi AM, Campeau PM, Campillo S, Lahiry P.   +5 more
europepmc   +2 more sources

Osteochondrodysplasias

, 2011
core   +4 more sources

Acromesomelic Dysplasia With Homozygosity for a Likely Pathogenic BMPR1B Variant: Postaxial Polydactyly as a Novel Clinical Finding. [PDF]

Mol Genet Genomic Med
Background Acromesomelic chondrodysplasias are a rare subgroup of the clinically and genetically heterogeneous osteochondrodysplasias that are characterised by abnormalities in the limb development and short stature.
Abdelrazek IM, Knaus A, Javanmardi B, Krawitz PM, Horn D, Abdalla EM, Kumar S.   +6 more
europepmc   +2 more sources

The Fetus Points to the Diagnosis of Rare Skeletal Dysplasia: Stuve-wiedemann Syndrome: Retrospective Case Series and Prenatal Review. [PDF]

J Med Ultrasound
Background: Stuve–Wiedemann syndrome (SWS) is a rare skeletal abnormality with extensive postnatal literature but limited prenatal studies. Our group had published a diagnostic algorithm to identify prenatal cases, yet, the challenge continues ...
Begam MA, Hasan M, Chedid F, Mirghani H.
europepmc   +2 more sources

Osteochondrodysplasias

, 1986
Cornelis J. P. Thijn
openaire   +2 more sources