The disease manifests around the age of three to eight years and progresses with symptoms of early fatigue, muscle weakness, joint swelling and stiffness. The resulting functional limitations are often described as having a waddling gait. [ncbi.nlm.nih.gov]

Fatigue, muscle weakness, waddling gait, bowed legs and joint stiffness may be early manifestations. read more NGS/Del Dup Comprehensive Turnaround Time: Typically 1 to 2 weeks from receipt of a sample in the laboratory. [ctgt.net]

Major symptoms include stiffness of joints, bony swellings of toes and fingers, weakened muscles, fatigue and bowed legs. [ashg.org]

[…] diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy. ( 12819927 ) Ehl S....Kirchhoff A. 2004 37 Mega os trigonum in progressive pseudorheumatoid dysplasia. ( 11819063 ) Oestreich AE 2002 38 An eleven-year-old female Turkish [malacards.org]

An eleven-year-old female Turkish patient with progressive pseudorheuma-toid dysplasia mimicking juvenile idiopathic arthritis. Clin ExpRheumatol 2001; 19: 759.7 el-Shanti H, Murray JC, Semina EV, Beutow KH, Scherpbier T,al-Alami J. [myslide.es]

An eleven- year-old female Turkish patient with progressive pseudorheuma- toid dysplasia mimicking juvenile idiopathic arthritis. Clin Exp Rheumatol 2001; 19: 759. 7 el-Shanti H, Murray JC, Semina EV, Beutow KH, Scherpbier T, al-Alami J. [docslide.net]

Targeted analysis for pathogenic variants can include the following: c.156C A (p.Cys52Ter) is the most frequent pathogenic variant in Turkish patients and accounts for approximately 28% of pathogenic variants worldwide [Author, review of the literature [ncbi.nlm.nih.gov]

The phenotype of the male from family 1 in this study was no milder than that of the Turkish patient. [spandidos-publications.com]

It is characterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. [doi.org]

Major symptoms include stiffness of joints, bony swellings of toes and fingers, weakened muscles, fatigue and bowed legs. [ashg.org]

It is char- acterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. [docslide.net]

Femoral T and Z scoreswere8.87and10.26, respectively.The patient was diagnosed with PPAC based on the typicalclinical (childhood onset, bony swelling of interphalangealjoints, gradual decrease in joint mobility, disabling hip andback pain, lack of overt [myslide.es]

His examination was notable for bony swelling and restricted motion of the proximal and distal IP joints of the fingers and toes, limited range of motion in the wrists, flexion contractures of the elbows, markedly limited range of motion in both shoulders [academic.oup.com]

It is characterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. [doi.org]

It is char-acterised with arthralgia, joint contractures, bony swellingof metacarpophalangeal and interphalangeal joints andplatyspondyly. [myslide.es]

It is char- acterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. [docslide.net]

PPD patient symptoms were more severe with advancing age; and 3. in contrast with previously reported cases, arthralgia was not clearly observed in these two families, excluding the hip pain observed in the advanced stage of the disease. [journals.plos.org]

Homozygosity mapping using DNA pooling approach performed by El-Shanti et al. (1998) showed linkage in a 20 cM region on the long arm of chromosome 6. [cags.org.ae]

Toour knowledge, this is the third case report of a patient withPPAC from Turkey (5,6).Initial mapping studies assigned the gene responsible forthe disease to the long arm of chromosome 6. [myslide.es]

Initial mapping studies assigned the gene responsible for the disease to the long arm of chromosome 6. However, examination of COL10A1, which is a candidate gene in this region, did not reveal any mutations (7,8). [docslide.net]

X-rays demonstrated joint space narrowing and osteophytes without erosions at the proximal and distal IP and MCP joints of the hands, the intercarpal joints, the glenohumeral joints, the tibiotalar joints and the intertarsal joints ( Fig. 1 ). [academic.oup.com]

Osteophytic formations and periarticular calcifications can be seen. Figure 2. Radiographs of hands show large epiphyses and widened metaphyses of metacarpals and phalanges. Joint space is also reduced. Figure 3. [ncbi.nlm.nih.gov]

In the mucopolysaccharidoses (MPSs) the vertebral deformities (hook-shaped vertebral bodies with inferior beaking or platyspondyly with central beaking) and progressive joint limitation are similar to those of PPD. [ncbi.nlm.nih.gov]

[…] symbols: WISP-3, WISP3 ) Mouse Orthologs Ccn6 (Withdrawn symbols: ENSMUSG00000062074, Gm735, Wisp3 ) Source OMIM:208230 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes [mousephenotype.org]

Pregnancy Management Deformities of pelvis may necessitate delivery by cesarean section in pregnant women who have PPD. [ncbi.nlm.nih.gov]

Loss or downregulation of WISP-3 is associated with breast cancers, colorectal cancers, and hepatocellular carcinoma as reduction of WISP-3 stimulates tumorigenesis. [ncbi.nlm.nih.gov]