Spontaneous patella dislocation in Rubinstein Taybi Syndrome

Lázaro, J. Sánchez; Herráez, S. Sánchez; Gállego, Luis Díaz; Caballero, E. Gamazo; Díaz, J. Fernández

doi:10.1016/j.knee.2006.10.002

Cited by 8 publications

(5 citation statements)

References 7 publications

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“…Limited to orthopedic or spine surgery, there were 5 reports of knee surgery for patella dislocation [8-10,13,14], 3 reports of hand surgery for thumb deformity [7,11,15], one report of foot surgery for postaxial polydactyly [4], one report of cervical spine surgery for myelopathy [6], and one report of lumbar spine surgery for tethered spinal cord [12]. None of these reports mentioned any perioperative complications in these reports in spite of various medical problems in RSTS.…”

Section: Discussionmentioning

confidence: 99%

Rubinstein-Taybi syndrome with scoliosis

Tatara¹,

Kawakami

Tsuji

et al. 2011

Scoliosis

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Study DesignCase report.ObjectiveThe authors present the case of a 14-year-old boy with Rubinstein-Taybi syndrome (RSTS) presenting scoliosis.Summary of Background DataThere have been no reports on surgery for RSTS presenting scoliosis.MethodsThe patient was referred to our hospital for evaluation of a progressive spinal curvature. A standing anteroposterior spine radiograph at presentation to our hospital revealed an 84-degree right thoracic curve from T6 to T12, along with a 63-degree left lumbar compensatory curve from T12 to L4. We planned a two-staged surgery and decided to fuse from T4 to L4. The first operation was front-back surgery because of the rigidity of the right thoracic curve. The second operation of lumbar anterior discectomy and fusion was arranged 9 months after the first surgery to prevent the crankshaft phenomenon due to his natural course of adolescent growth. To avoid respiratory complications, the patient was put on a respirator in the ICU for several days after both surgeries.ResultsFull-length spine radiographs after the first surgery revealed no instrumentation failure and showed that the right thoracic curve was corrected to 31 degrees and the left lumbar curve was corrected to 34 degrees. No postoperative complications occurred after both surgeries.ConclusionsWe succeeded in treating the patient without complications. Full-length spine standing radiographs at one year after the second operation demonstrated a stable bony arthrodesis with no loss of initial correction.

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Section: Discussionmentioning

confidence: 99%

Rubinstein-Taybi syndrome with scoliosis

Tatara¹,

Kawakami

Tsuji

et al. 2011

Scoliosis

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“…Twenty‐three studies (one cohort study, one case–control study, one cross‐sectional study, one incidence study, and 19 case reports) described 13 different syndromes that may be associated with PD. Five studies suggested that Rubinstein‐Taybi syndrome was associated with PD [15, 37, 44, 48, 62]. Mehlman et al found PD in 3.4% of 732 participants with Rubinstein‐Taybi syndrome [44], and four more studies found a possible association between Rubinstein‐Taybi syndrome and PD [15, 37, 48, 62].…”

Section: Methodsmentioning

confidence: 99%

“…Five studies suggested that Rubinstein‐Taybi syndrome was associated with PD [15, 37, 44, 48, 62]. Mehlman et al found PD in 3.4% of 732 participants with Rubinstein‐Taybi syndrome [44], and four more studies found a possible association between Rubinstein‐Taybi syndrome and PD [15, 37, 48, 62]. Four studies found that Downs syndrome was associated with PD [20, 21, 51, 61].…”

Section: Methodsmentioning

confidence: 99%

Familial association and epidemilogical factors as risk factors for developing first time and recurrent patella dislocation: a systematic review and best knowledge synthesis of present literature

Danielsen

Poulsen

Eysturoy

et al. 2023

Knee Surg Sports Traumatol Arthrosc

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Purpose The aim of our study was to perform a systematic review and best knowledge synthesis of the present literature concerning the familial association and epidemiological factors as risk factors for developing irst-time and recurrent patella dislocation. MethodsThe study was conducted according to the PRISMA guidelines and registered in PROSPERO. EMBASE and PubMed were systematically searched on the 5th of May 2022. Studies investigating participants with genetic and epidemiological risk factors for the irst time as well as recurrent patella dislocation were included. The records were screened, and data were extracted independently by two researchers supervised by a third independent assessor. Results A total of 6,649 records were screened, and 67 studies were included. Familial association was described as a risk factor for patella dislocation in 17 studies. One study found that participants with a family history of patella dislocation had a 3.7 higher risk for patella dislocation in the contralateral asymptomatic knee, and another study found a family history of PD in 9% of 74 participants. Eleven studies found an accumulation of patella dislocation across generations in speciic families. Additionally, a range of genetic syndromes was associated with patella dislocation. Young age is a well-investigated risk factor for patella dislocation, but the results are inconsistent. Only ive and eight studies investigated skeletal immaturity and gender as risk factors for patella dislocation, respectively. Conclusion There may be a familial association with patella dislocation, but further investigation is necessary to determine the strength and etiology of the association. There is weak evidence that epidemiological risk factors, such as age, skeletal immaturity, gender, and BMI are risk factors for patella dislocation. Level of evidence IV.

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“…3% of the patients with RTS; it was noted, however, that this figure seems to be un derestimated [15]. A correct diagnosis and treatment of patello femoral joint pathology in RTS patients appear to play a crucial role for their in dependent mobility [15][16][17][18][19].…”

Section: Introductionmentioning

confidence: 99%

“…U oko ło 3% cho rych z RTS stwier dza no nie pra wi dło wo ści w ob rę bie sta wu rzepko wo -udo we go, za zna cza jąc jed nak, że od se tek ten wy da je się być za ni żo ny [15]. Pra wi dło we roz po znanie i le cze nie pa to lo gii sta wu rzep ko wo -udo we go u cho rych z RTS wy da ję się mieć klu czo we zna czenie dla ich sa mo dziel nej lo ko mo cji [15][16][17][18][19]. …”

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Dislocation of the patella in a patient with Rubinstein-Taybi syndrome – a case study.

Tyrakowski

Pietrzak²,

Przybysz³

et al. 2011

Ortopedia, traumatologia, rehabilitacja

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STRESZCZEnIEZe spół Ru bin ste ina -Tay bie go to rzad ki ze spół wad wro dzo nych o na dal nie usta lo nej etio lo gii. U więk szości cho rych stwier dza się nie pra wi dło wo ści w na rzą dzie ru chu, któ re mo gą mieć istot ne zna cze nie dla sa modziel nej lo ko mo cji.W pra cy przed sta wio no wy ni ki le cze nia ope ra cyj ne go nie sta bil no ści sta wu rzep ko wo -udo we go u 13-let niej cho rej z ze spo łem Ru bin ste ina -Tay bie go. Okres ob ser wa cji wy niósł 3 la ta. Uzy ska no ustą pie nie do le gli wo ści bó lo wych, zwięk sze nie za kre su ru chów w sta wie ko la no wym i znacz ną po pra wę cho du.Roz le gła pla sty ka apa ra tu wy prost ne go sta wu ko la no we go w le cze niu nie sta bil no ści sta wu rzep ko wo -udowe go w prze bie gu ze spo łu Ru bin ste ina -Tay bie go zwięk sza szan se do bre go i trwa łe go wy ni ku le cze nia.Słowa kluczowe: zwichnięcie rzepki, zespół Rubinsteina-Taybiego, zespół wad wrodzonych SUMMARYThe Rubinstein-Taybi syndrome (RTS) is a rare syndrome of congenital disorders whose etiology is still unknown. Most RTS patients have musculoskeletal abnormalities which, if untreated, may significantly affect in depen dent mobility. This paper presents the results of a surgical treatment of a 13-year-old patient with RTS and instability of the patellofemoral joint. The patient was followed up for 3 years. Surgery resulted in complete pain relief, increased knee range of motion and marked improvement in the patient's gait.An extensive plasty of the extensor apparatus of the knee joint increases the likelihood of a good and lasting treatment result in patients with RTS and instability of the patellofemoral joint.Key words: dislocation of the patella, Rubinstein-Taybi syndrome, congenital dysmorphic syndrome This copy is for personal use only -distribution prohibited.r r t t o o p p e e d d i i a a-WSTĘP W 1963 ro ku Jack Ru bin ste in i Ho oshang Tay bi opi sa li sied miu cho rych z upo śle dze niem umy sło -wym oraz cha rak te ry stycz ną bu do wą cia ła [1]. Rok póź niej Cof fin przed sta wił ko lej nych sze ściu chorych z po dob ny mi ce cha mi i za pro po no wał wy odręb nie nie no we go ze spo łu wad wro dzo nych -ze społu Ru bin ste ina -Tay bie go (ang. Ru bin ste in -Tay bi syndro me) (RTS) zwa ne go też ze spo łem sze ro kie go kciu ka i pa lu cha [2]. Do sta łych cech RTS na le żą: ró -żne go stop nia opóź nie nie roz wo ju psy cho ru cho we go lub upo śle dze nie umy sło we, krót kie i sze ro kie kciuki (tzw. szpa tuł ki), sze ro kie pa lu chy oraz ce chy dysmor fii twa rzo czasz ki (usta wio ne sko śnie ku do ło wi szpa ry po wie ko we, fałd na kąt ny, go tyc kie pod niebie nie) [1][2][3][4]6,7]. U więk szo ści cho rych wy stę pu ją nie pra wi dło wo ści w bu do wie no sa i uszu oraz wa dy na rzą dów we wnętrz nych [1][2][3][4][5][6][7].Do tych czas nie usta lo no przy czyn RTS ani sposo bu je go dzie dzi cze nia. Opi sy wa no co najm niej kil kana ście ró żnych nie pra wi dło wo ści ge ne tycz nych [8]. Po stu lu je się częst sze wy stę po wa nie mu ta cji ge n...

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Spontaneous patella dislocation in Rubinstein Taybi Syndrome

Cited by 8 publications

References 7 publications

Rubinstein-Taybi syndrome with scoliosis

Rubinstein-Taybi syndrome with scoliosis

Familial association and epidemilogical factors as risk factors for developing first time and recurrent patella dislocation: a systematic review and best knowledge synthesis of present literature

Dislocation of the patella in a patient with Rubinstein-Taybi syndrome – a case study.

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