A ten year old South African girl of mixed ancestry presented with gross facial abnormalities and dwarfism consequent upon a bizarre skeletal dysplasia.[ncbi.nlm.nih.gov]
On Dwarfism. von Dreele, W.H. // National Review;8/14/1987, Vol. 39 Issue 15, p12 Presents the poem "On Dwarfism". Midget. // Columbia Electronic Encyclopedia, 6th Edition;Feb2013, p1 Midget: see dwarfism.[connection.ebscohost.com]
Abstract A ten year old South African girl of mixed ancestry presented with gross facial abnormalities and dwarfism consequent upon a bizarre skeletal dysplasia.[link.springer.com]
Short Reports 49 Downloads 12 Citations Abstract A ten year old South African girl of mixed ancestry presented with gross facial abnormalities and dwarfism consequent upon a bizarre skeletal dysplasia.[link.springer.com]
If a pair of achondroplasia alleles are present, the result is fatal. Achondroplasia is a mutation in the fibroblast growth factor receptor 3.[882m.com]
Pain and disability may be ameliorated by physical therapy, braces or other orthotic devices, or by surgicalprocedures. The only simple interventions that increase perceived adult height are dress enhancements, such as shoe lifts or hairstyle.[dict.eudic.net]
This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
The main radiographic features were craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyly. Intelligence was normal and there were no systemic ramifications.[link.springer.com]
The main radiographic features include: craniostenosis, fibrous dysplasia, metaphyseal lucencies and platyspondyly. Gene FGFR1 gene, 9p11.23-p11.22 (OMIM gene/locus number #136350 ).[iofbonehealth.org]
[…] skeletal dysplasia; spondyloepiphyseal dysplasia congenita; spondyloperipheral dysplasia AD Achondrogenesis type II – short limbs and phalanges, thoracic hypoplasia, hydropic fetal appearance Czech dysplasia – progressive pseudorheumatoid arthritis, platyspondyly[arupconsult.com]
Early degenerative joint disease, exaggerated lordosis or scoliosis, and constriction of spinal cord or nerve roots can cause pain and disability. Reduced thoracic size can restrict lung growth and reduce pulmonary function.[dict.eudic.net]
Geleophysic dysplasia Get Update Overview Geleophysic dysplasia-1 is an autosomal recessive disorder characterized by severe short stature, shorthands and feet, joint limitations, and skin thickening.[diseaseinfosearch.org]
Autosomal dominant inheritance is suggested. Statistics from Altmetric.com Request Permissions If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service.[jmg.bmj.com]
Loss of the 21 amino acids encoded by exons 8 and 9 is suggested to cause aberrant expression of FGFR2b [ 62 ].[basicmedicalkey.com]
Functional studies suggest that these FGFR mutations are activating. Three major mechanisms of activation have been described. The first results in increased affinity for fibroblast growth factors (FGFs), the FGFR ligands.[ommbid.mhmedical.com]
Recent scholarship has suggested that ancient Egyptians held dwarfs in high esteem. Several important mythological figures of the North American Wyandot nation are portrayed as dwarfs.[dict.eudic.net]
Phenotype / cell stem origin The same t(6;8)(q27;p12) is found both in the bone marrow and in the lymph node: the multilineage involvement suggests the malignant transformation of a primitive hematopoietic stem cell.[atlasgeneticsoncology.org]
Dickson, David // Nature;7/29/1993, Vol. 364 Issue 6436, p372 Reports on the denial by the Pasteur Institute in Paris of alleged malpractice over the deaths from Creutzfeldt-Jakob disease of several children treated for dwarfism.[connection.ebscohost.com]
Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.com]
Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies. Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.com]
CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
Best prognosis. Frequently misinterpreted as an encephalocele or hygroma. Weiner CP, Williamson RA, Bonsib SM. Sonographic Diagnosis of Cloverleaf Skull and Thanatophoric Dysplasia in the Second Trimester. J Clin Ultrasound 1986, 14: 463-465.[fetalultrasound.com]
Prognosis Median survival: 6 months. Although the number of reported cases is low, EMS seems to be disease with bad prognosis that generally progresses to acute leukemia.[atlasgeneticsoncology.org]
The etiology of craniosynostosis is heterogeneous. Isolated occurrence with unknown etiology is common, mostly affecting the sagittal suture.[ommbid.mhmedical.com]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
Epidemiology Rare, very few cases described with this translocation (eight until date, four female and four male). A higher number have been described with other FGFR1 fusions, mainly t(8;13) and ZNF198 -FGFR1 fusion.[atlasgeneticsoncology.org]
This provides a platform for ongoing work to understand the processes of suture biogenesis and the pathophysiology of craniosynostosis mutations.[ommbid.mhmedical.com]