Disease #01667 (PPRD (dysplasia, pseudorheumatoid, progressive), OMIM:208230)

Official abbreviation PPRD
Name dysplasia, pseudorheumatoid, progressive
OMIM ID 208230
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 156
Phenotype entries for this disease 132
Associated with 1 gene WISP3
Associated tissues -
Disease features -
Remarks autosomal recessive
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2022-01-30 12:28:46 +01:00 (CET)


Individuals

156 entries on 2 pages. Showing entries 1 - 100.
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00249429 Fam1;Pat42 PubMed: Hurvitz 1999, PubMed: Garcia Segarra 2012 family, unaffected heterozygous carrier parents - no Italy - - - - - PPRD - WISP3 WISP3 2 1 Johan den Dunnen
00249430 Fam2;Pat37 PubMed: Hurvitz 1999, {PMID:Garcia Segarra 2012:22791401 family, unaffected heterozygous carrier parents - no Italy - - - - - PPRD - WISP3 WISP3 2 1 Johan den Dunnen
00249431 Fam3 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - no France - - - - - PPRD - WISP3 WISP3 2 1 Johan den Dunnen
00249432 Fam4 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - yes Saudi Arabia - - - - - PPRD - WISP3 WISP3 1 1 Johan den Dunnen
00249433 Fam5 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - yes Saudi Arabia - - - - - PPRD - WISP3 WISP3 1 1 Johan den Dunnen
00249434 Fam9 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - yes Jordan - - - - - PPRD - WISP3 WISP3 1 1 Johan den Dunnen
00249435 Fam8 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - yes Jordan - - - - - PPRD - WISP3 WISP3 1 1 Johan den Dunnen
00249436 Fam11 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - no United States - - - - - PPRD - WISP3 WISP3 3 1 Johan den Dunnen
00249437 Fam12 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - yes Iran - - - - - PPRD - WISP3 WISP3 1 1 Johan den Dunnen
00249438 Fam6 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - - United States - - - - - PPRD see paper; ... WISP3 WISP3 2 1 Johan den Dunnen
00263087 Fam9Pat12 PubMed: Dalal 2012 4-generation family, 6 affected (4F, 2M), unaffected heterozygous carrier parents/relatives heterozygous carriers F yes India - - - - no response to anti inflammatory drugs PPRD height 122 (SD-3-4); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; Low back pain; affected joints hands, elbows, hips, knees, feet, spine; no facial dysmorphism; no intellectual disability; Exaggerated lumbar lordosis; platyspondyly; no kyphosis; scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Severe hip disease WISP3 WISP3 1 6 Gandham SriLakshmi Bhavani
00263088 Fam3 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; ... WISP3 WISP3 2 1 Gandham SriLakshmi Bhavani
00263308 Fam1 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 2 1 Gandham SriLakshmi Bhavani
00263309 Fam2 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263310 Fam4 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263311 Fam5 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263312 Fam6 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263313 Fam7 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263314 Fam8 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263315 Fam9 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263316 Fam10 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263317 Fam11 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263318 Fam12 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263319 Fam13 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263320 Fam14 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263321 Fam15 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263322 Fam16 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263323 Fam17 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263324 Fam18 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263325 Fam19 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263326 Fam20 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263327 Fam21 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 2 1 Gandham SriLakshmi Bhavani
00263328 Fam22 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263329 Fam23 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263330 Fam24 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263331 Fam25 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263332 Fam26 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263333 Fam27 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 2 1 Gandham SriLakshmi Bhavani
00263334 Fam28 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263335 Fam29 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263336 Fam30 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263337 Fam31 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263338 Fam32 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 2 1 Gandham SriLakshmi Bhavani
00263339 Fam33 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263340 Fam34 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263341 Fam35 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263342 Fam36 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263343 Fam37 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263344 Fam38 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 2 1 Gandham SriLakshmi Bhavani
00263345 Fam39 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263346 Fam40 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263347 Fam41 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263348 Fam42 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263349 Fam43 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263350 Fam44 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263351 Fam45 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263352 Fam46 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263353 Fam47 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263354 Fam48 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263355 Fam49 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263356 Fam50 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263357 Fam51 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263358 Fam52 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263359 Fam53 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263360 Fam54 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263361 Pat1 PubMed: Dalal 2012 - F no India - - - - - PPRD height 121.5 (SD-5-6); difficulty walking; muscle weakness; joint pain; no joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, knees, ankles, spine; no intellectual disability; platyspondyly; scoliosis; enlarged femoral epiphyses; no coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263362 Pat2 PubMed: Dalal 2012 - F no India - - - - - PPRD height 126.5 (SD-2-3); difficulty walking; muscle weakness; no joint pain; joint swelling; joint contractures; affected joints hands, elbows, hips, knees, ankles, feet; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263363 Fam3Pat3 PubMed: Dalal 2012 Brother of P4 M yes India - - - - - PPRD height 135 (SD-1-2); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, ankles; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; no coxa vara; epiphyseal irregularities; metaphyseal irregularities; WISP3 WISP3 2 2 Gandham SriLakshmi Bhavani
00263364 Fam3Pat4 PubMed: Dalal 2012 Brother of P3 M yes India - - - - - PPRD difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, ankles; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; no coxa vara; epiphyseal irregularities; metaphyseal irregularities; WISP3 WISP3 2 1 Gandham SriLakshmi Bhavani
00263365 Pat5 PubMed: Dalal 2012 - F yes India - - - - initial response to anti inflammatory drugs PPRD height 134 (SD-4-5); difficulty walking; muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, wrists, elbows, shoulders, hips, knees, ankles, feet, spine, neck; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263366 Fam5Pat6 PubMed: Dalal 2012 Son of P7 M yes India - - - - minimal response to anti inflammatory drugs PPRD difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, wrists, elbows, hips, knees, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; WISP3 WISP3 1 2 Gandham SriLakshmi Bhavani
00263367 Fam5Pat7 PubMed: Dalal 2012 Mother of P6 F yes India - - - - minimal response to anti inflammatory drugs PPRD difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, wrists, elbows, hips, knees, ankles, feet, spine; no facial dysmorphism; no intellectual disability; Severe involvement compared to proband; platyspondyly; kyphosis; scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263368 Pat8 PubMed: Dalal 2012 - M yes India - - - - - PPRD no difficulty walking; no muscle weakness; joint pain; joint swelling; no joint contractures; no genu valgum; affected joints hands, wrists, knees, spine; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263369 Fam7Pat9 PubMed: Dalal 2012 Sister of P10 F yes India - - - - response to anti inflammatory drugs PPRD height 138 (SD-4-5); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; Unable to squat; affected joints hands, elbows, hips, knees; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; WISP3 WISP3 1 2 Gandham SriLakshmi Bhavani
00263370 Fam7Pat10 PubMed: Dalal 2012 Sister of P9 F yes India - - - - response to anti inflammatory drugs PPRD height 136 (SD-0-2); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; Unable to squat; affected joints hands, elbows, hips, knees, feet; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263371 Pat11 PubMed: Dalal 2012 - M no India - - - - mild response to anti inflammatory drugs PPRD height 116 (SD-3-4); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; Difficulty in squatting; affected joints hands, elbows, hips, knees, feet; no facial dysmorphism; no intellectual disability; Difficulty in writing, exaggerated lumbar lordosis; platyspondyly; no kyphosis; scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263372 Pat12 PubMed: Dalal 2012 - F - India - - - - - PPRD see paper; … WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263373 Fam10Pat13 PubMed: Dalal 2012 Brother of P14 M no India - - - - minimal response to anti inflammatory drugs PPRD difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, knees; no facial dysmorphism; no intellectual disability; WISP3 WISP3 1 2 Gandham SriLakshmi Bhavani
00263374 Fam10Pat14 PubMed: Dalal 2012 Brother of P13 M no India - - - - minimal response to anti inflammatory drugs PPRD height 127 (SD-2); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; Neck movements restricted; affected joints hands, wrists, elbows, hips, knees, neck; no facial dysmorphism; no intellectual disability; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263375 Fam11Pat15 PubMed: Dalal 2012 Brother of P16 M yes India - - - - minimal response to anti inflammatory drugs PPRD height 101 (SD-4); difficulty walking; no muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, wrists, hips, knees, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Coxa vara WISP3 WISP3 1 2 Gandham SriLakshmi Bhavani
00263376 Fam11Pat16 PubMed: Dalal 2012 Brother of P15 M yes India - - - - minimal response to anti inflammatory drugs PPRD height 130 (SD-5-6); difficulty walking; muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; Myopia; affected joints hands, wrists, elbows, hips, knees, ankles, feet, spine, neck; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Fused ankles and knees WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263377 Pat17 PubMed: Dalal 2012 - M yes India - - - - no response to anti inflammatory drugs PPRD height 140 (SD-0-1); difficulty walking; muscle weakness ; joint contractures; genu valgum; Stiffness of limbs; affected joints, wrists, shoulders, knees, neck; facial dysmorphism; no intellectual disability; ; scoliosis; no enlarged femoral epiphyses; no coxa vara; loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263378 Pat18 PubMed: Dalal 2012 - M yes India - - - - no response to anti inflammatory drugs PPRD difficulty walking; muscle weakness; joint contractures; Stiffness of limbs; affected joints,wrists, shoulders, knees, neck; facial dysmorphism; no intellectual disability; scoliosis; no enlarged femoral epiphyses; no coxa vara; loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263379 Pat19 PubMed: Dalal 2012 - M no India - - - - - PPRD affected joints,wrists, elbows, knees; no facial dysmorphism; no intellectual disability; epiphyseal irregularities; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263380 Fam15Pat20 PubMed: Dalal 2012 Brother of P21 M yes India - - - - no response to anti inflammatory drugs PPRD height 112 (SD-5-6); no muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, hips, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; no scoliosis; no enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; WISP3 WISP3 1 2 Gandham SriLakshmi Bhavani
00263381 Fam15Pat21 PubMed: Dalal 2012 Sister of P20 F yes India - - - - no response to anti inflammatory drugs PPRD height 104 (SD-5-6); no muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, hips, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; no scoliosis; no enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263382 Pat22 PubMed: Dalal 2012 - M no India - - - - - PPRD difficulty walking; joint swelling; affected joints,elbows, knees; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263383 Pat23 PubMed: Dalal 2012 - F no India - - - - - PPRD height 112 (SD-0-2); difficulty walking; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, knees, spine; no facial dysmorphism; platyspondyly; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263384 Fam18Pat24 PubMed: Dalal 2012 Sister of P25 F yes India - - - - no response to anti inflammatory drugs PPRD height 109 (SD-5-6); no difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; genu valgum; Mid face hypoplasia; affected joints hands, wrists, elbows, hips, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; no scoliosis; no enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; WISP3 WISP3 1 2 Gandham SriLakshmi Bhavani
00263385 Fam18Pat25 PubMed: Dalal 2012 Sister of P24 F yes India - - - - no response to anti inflammatory drugs PPRD height 110 (SD-4); no difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; Mid face hypoplasia; affected joints hands, wrists, elbows, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; kyphosis; no scoliosis; no enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263386 Fam19Pat26 PubMed: Dalal 2012 Brother of P27 M yes India - - - - no response to anti inflammatory drugs PPRD height 145 (SD-2-3); no difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, elbows, hips, knees, feet; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; scoliosis; enlarged femoral epiphyses; no coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Corner fracture WISP3 WISP3 1 2 Gandham SriLakshmi Bhavani
00263387 Fam19Pat27 PubMed: Dalal 2012 Brother of P26 M yes India - - - - - PPRD no difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; affected joints ; platyspondyly; no kyphosis; no coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263388 Pat28 PubMed: Dalal 2012 Brother of P29 M yes India - - - - no response to anti inflammatory drugs PPRD height 135 (SD-5); difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, hips, knees, spine; no facial dysmorphism; no intellectual disability; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Physeal seperation at neck of femur, odontoid hypoplasia WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263389 Pat29 PubMed: Dalal 2012 Brother of P28 M yes India - - - - no response to anti inflammatory drugs PPRD height 110 (SD-1-2); difficulty walking; no muscle weakness; no joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, hips; no facial dysmorphism; no intellectual disability; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; Physeal seperation at neck of femur WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263390 Fam21Pat30 PubMed: Dalal 2012 Sister of P31 F yes India - - - - no response to anti inflammatory drugs PPRD height 116 (SD-1); no difficulty walking; muscle weakness; joint pain; joint swelling; joint contractures; genu valgum; affected joints hands, elbows, shoulders, hips, knees, neck; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; coxa vara; loss of joint space (in affected joints); no periarticular osteoporosis; epiphyseal irregularities; metaphyseal irregularities; WISP3 WISP3 1 2 Gandham SriLakshmi Bhavani
00263391 Fam21Pat31 PubMed: Dalal 2012 Sister of P30 F yes India - - - - no response to anti inflammatory drugs PPRD height 101 (SD-2); no difficulty walking; no muscle weakness; no joint pain; no joint swelling; affected joints hands; no facial dysmorphism; no intellectual disability; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263392 Pat32 PubMed: Dalal 2012 - M no India - - - - no response to anti inflammatory drugs PPRD difficulty walking; muscle weakness; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, shoulders, hips, knees, ankles, spine; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; enlarged femoral epiphyses; loss of joint space (in affected joints); epiphyseal irregularities; no metaphyseal irregularities; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263393 Pat33 PubMed: Dalal 2012 - M no India - - - - - PPRD height 110 (SD-5); no difficulty walking; joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands; no intellectual disability; platyspondyly; scoliosis; periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263394 Pat34 PubMed: Dalal 2012 - M no India - - - - no response to anti inflammatory drugs PPRD difficulty walking; muscle weakness; no joint pain; joint swelling; joint contractures; no genu valgum; affected joints hands, wrists, elbows, shoulders, hips, knees, ankles, feet, spine; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; no scoliosis; no enlarged femoral epiphyses; no coxa vara; no loss of joint space (in affected joints); no periarticular osteoporosis; no epiphyseal irregularities; no metaphyseal irregularities; WISP3 WISP3 1 1 Gandham SriLakshmi Bhavani
00263395 Pat35 PubMed: Dalal 2012 Brother (not included in the study) F no India - - - - no response to anti inflammatory drugs PPRD height 140.5 (SD-4); no difficulty walking; no muscle weakness; joint pain; joint contractures; genu valgum; affected joints hands, wrists, elbows, shoulders, hips, knees, ankles, feet, spine, neck; no facial dysmorphism; no intellectual disability; platyspondyly; no kyphosis; scoliosis; no enlarged femoral epiphyses; no coxa vara; loss of joint space (in affected joints); periarticular osteoporosis; epiphyseal irregularities; no metaphyseal irregularities; Bilateral hip replacement WISP3 WISP3 2 1 Gandham SriLakshmi Bhavani
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