Hand and Upper Limb Anomalies in Poland Syndrome

Catena, Nunzio; Divizia, Maria Teresa; Calevo, Maria Grazia; Baban, Anwar; Torre, Michele; Ravazzolo, Roberto; Lerone, Margherita; Senes, F. M.

doi:10.1097/bpo.0b013e318269c898

Cited by 29 publications

(21 citation statements)

References 17 publications

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“…Our findings that over 53 % of the patients were “normal presentation” patients concurs with previously published reports that a majority of elective referrals to paediatric orthopaedic specialists are for variants of normal development [ 33 ], and most are discharged after initial consultation [ 1 , 2 , 6 – 9 , 33 ].…”

Section: Discussionsupporting

confidence: 92%

“…Several authors have cited a lack of confidence in musculoskeletal diagnostic skills amongst primary care physicians as a reason for the high rate of unnecessary referrals [ 21 – 28 ], and have called for improved musculoskeletal education as part of entry-level medical education. The American Academy of Paediatrics in 2002 published guidelines for primary care physicians on referral for specialist opinion [ 29 ], but subsequent studies found that this publication has had no effect on referral patterns [ 1 , 30 ]. It is within this context that new strategies are required to provide effective high-quality care for patients.…”

Section: Discussionmentioning

confidence: 99%

“…Pediatric orthopedics is a well-recognised speciality, but it is acknowledged worldwide that it is under-resourced and understaffed [ 1 – 3 ], with a resultant increase in elective waiting lists. A large proportion of those seeking assessment are “the worried well”: children who present for assessment due to parental concern regarding the lower limb, foot and/or gait.…”

Section: Introductionmentioning

confidence: 99%

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The efficacy of an extended scope physiotherapy clinic in paediatric orthopaedics

Mir

Cooney

O’Sullivan

et al. 2016

Journal of Children's Orthopaedics

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BackgroundThe demand for paediatric orthopaedic care is growing, and providing the service required is an increasingly challenging task. Physiotherapist-led triage clinics are utilised in adult orthopaedics to enable the provision of care to patients who may not require a surgical consult. The Physiotherapy Orthopaedic Triage Clinic (POTC) was established in Our Lady’s Children’s Hospital Crumlin in response to increasing demands on the paediatric orthopaedic service. The clinic is run by physiotherapists working in an advanced practice role (APP), and is the first paediatric clinic of its type and scale in the Republic of Ireland.PurposeTo evaluate the efficacy of the service over the 3-year period from January 2011 to December 2013.MethodsA review of the prospectively gathered database was performed in order to establish the demographic profile of patients, investigate clinic outcomes, and evaluate the reduction in patient waiting times.Results2650 patients were managed by the clinic over the 3-year period. A total of 77 % of patients were managed without consultant intervention. Fifty-three percent of patients were diagnosed as having a normal presentation. The mean waiting time reduced from 101.9 weeks pre-2010 to 15.4 weeks in 2013 for those patients managed by the POTC.ConclusionSince its inception, the clinic has significantly reduced waiting times for routine elective paediatric orthopaedic patients while managing the majority of patients independent of surgical opinion. This study shows that the APP can deliver high-quality care in the paediatric orthopaedic setting, benefitting both patients and service.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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The efficacy of an extended scope physiotherapy clinic in paediatric orthopaedics

Mir

Cooney

O’Sullivan

et al. 2016

Journal of Children's Orthopaedics

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“…3 Poland's anomaly is the occurrence of unilateral absence or hypoplasia of the pectoralis major muscle with symbrachydactyly and does not have a genetic etiology. 4 Although symbrachydactyly predominantly involves the left hand, those cases occurring as a component of Poland's anomaly are primarily on the right side (61.1%). 4 Catena et al 4 demonstrated that 57.7% of patients with absent pectoralis major muscle had associated upper limb anomalies: 8% with hypoplastic hand and no functional or morphologic anomalies, 20.6% with symbrachydactyly and 5 functioning fingers with morphologic anomalies and limited motion, 14.9% with symbrachydactyly and some functioning fingers, and 4.6% with symbrachydactyly and absent or nonfunctioning fingers.…”

mentioning

confidence: 99%

Symbrachydactyly — Diagnosis, Function, and Treatment

Woodside

Light

2016

The Journal of Hand Surgery

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“…PS patients present with pectoralis muscle agenesis/hypoplasia, more frequently on the right side. PS can be associated with a variable degree of ipsilateral thoracic and/or upper limb anomalies [1, 2]. Incidence of PS has been reported between 1/20,000 and 1/30,000 births with a higher prevalence in males [3, 4].…”

Section: Introductionmentioning

confidence: 99%

Assessment of copy number variations in 120 patients with Poland syndrome

et al. 2016

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BackgroundPoland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies. Most cases are sporadic, but familial recurrence, with different inheritance patterns, has been observed. The genetic etiology of PS remains unknown. Karyotyping and array-comparative genomic hybridization (CGH) analyses can identify genomic imbalances that can clarify the genetic etiology of congenital and neurodevelopmental disorders. We previously reported a chromosome 11 deletion in twin girls with pectoralis muscle hypoplasia and skeletal anomalies, and a chromosome six deletion in a patient presenting a complex phenotype that included pectoralis muscle hypoplasia. However, the contribution of genomic imbalances to PS remains largely unknown.MethodsTo investigate the prevalence of chromosomal imbalances in PS, standard cytogenetic and array-CGH analyses were performed in 120 PS patients.ResultsFollowing the application of stringent filter criteria, 14 rare copy number variations (CNVs) were identified in 14 PS patients in different regions outside known common copy number variations: seven genomic duplications and seven genomic deletions, enclosing the two previously reported PS associated chromosomal deletions. These CNVs ranged from 0.04 to 4.71 Mb in size. Bioinformatic analysis of array-CGH data indicated gene enrichment in pathways involved in cell-cell adhesion, DNA binding and apoptosis processes. The analysis also provided a number of candidate genes possibly causing the developmental defects observed in PS patients, among others REV3L, a gene coding for an error-prone DNA polymerase previously associated with Möbius Syndrome with variable phenotypes including pectoralis muscle agenesis.ConclusionsA number of rare CNVs were identified in PS patients, and these involve genes that represent candidates for further evaluation. Rare inherited CNVs may contribute to, or represent risk factors of PS in a multifactorial mode of inheritance.Electronic supplementary materialThe online version of this article (doi:10.1186/s12881-016-0351-x) contains supplementary material, which is available to authorized users.

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Hand and Upper Limb Anomalies in Poland Syndrome

Abstract: IV.

Cited by 29 publications

References 17 publications

The efficacy of an extended scope physiotherapy clinic in paediatric orthopaedics

The efficacy of an extended scope physiotherapy clinic in paediatric orthopaedics

Symbrachydactyly — Diagnosis, Function, and Treatment

Assessment of copy number variations in 120 patients with Poland syndrome

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