All individuals with variants in gene WISP3

160 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 - 2 1 Johan den Dunnen
00249430 Fam2;Pat37 PubMed: Hurvitz 1999, {PMID:Garcia Segarra 2012:22791401 family, unaffected heterozygous carrier parents - no Italy - - - - - PPRD - 2 1 Johan den Dunnen
00249431 Fam3 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - no France - - - - - PPRD - 2 1 Johan den Dunnen
00249432 Fam4 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - yes Saudi Arabia - - - - - PPRD - 1 1 Johan den Dunnen
00249433 Fam5 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - yes Saudi Arabia - - - - - PPRD - 1 1 Johan den Dunnen
00249434 Fam9 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - yes Jordan - - - - - PPRD - 1 1 Johan den Dunnen
00249435 Fam8 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - yes Jordan - - - - - PPRD - 1 1 Johan den Dunnen
00249436 Fam11 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - no United States - - - - - PPRD - 3 1 Johan den Dunnen
00249437 Fam12 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - yes Iran - - - - - PPRD - 1 1 Johan den Dunnen
00249438 Fam6 PubMed: Hurvitz 1999 family, unaffected heterozygous carrier parents - - United States - - - - - PPRD see paper; ... 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 1 6 Gandham SriLakshmi Bhavani
00263088 Fam3 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; ... 2 1 Gandham SriLakshmi Bhavani
00263308 Fam1 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 2 1 Gandham SriLakshmi Bhavani
00263309 Fam2 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263310 Fam4 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263311 Fam5 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263312 Fam6 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263313 Fam7 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263314 Fam8 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263315 Fam9 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263316 Fam10 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263317 Fam11 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263318 Fam12 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263319 Fam13 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263320 Fam14 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263321 Fam15 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263322 Fam16 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263323 Fam17 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263324 Fam18 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263325 Fam19 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263326 Fam20 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263327 Fam21 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 2 1 Gandham SriLakshmi Bhavani
00263328 Fam22 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263329 Fam23 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263330 Fam24 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263331 Fam25 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263332 Fam26 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263333 Fam27 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 2 1 Gandham SriLakshmi Bhavani
00263334 Fam28 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263335 Fam29 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263336 Fam30 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263337 Fam31 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263338 Fam32 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 2 1 Gandham SriLakshmi Bhavani
00263339 Fam33 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263340 Fam34 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263341 Fam35 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263342 Fam36 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263343 Fam37 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263344 Fam38 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 2 1 Gandham SriLakshmi Bhavani
00263345 Fam39 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263346 Fam40 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263347 Fam41 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263348 Fam42 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263349 Fam43 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263350 Fam44 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263351 Fam45 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263352 Fam46 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263353 Fam47 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263354 Fam48 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263355 Fam49 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263356 Fam50 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263357 Fam51 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263358 Fam52 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263359 Fam53 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 1 1 Gandham SriLakshmi Bhavani
00263360 Fam54 PubMed: Bhavani 2015 - - - India - - - - - PPRD see paper; … 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; 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; 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; 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; 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; 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; 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; 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; 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; 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; 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; 1 1 Gandham SriLakshmi Bhavani
00263372 Pat12 PubMed: Dalal 2012 - F - India - - - - - PPRD see paper; … 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; 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; 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 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 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; 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; 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; 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; 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; 1 1 Gandham SriLakshmi Bhavani
00263382 Pat22 PubMed: Dalal 2012 - M no India - - - - - PPRD difficulty walking; joint swelling; affected joints,elbows, knees; 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; 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; 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; 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 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; 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 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 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; 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; 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; 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; 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; 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 2 1 Gandham SriLakshmi Bhavani
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