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Advances in Skin & Wound Care Jun 2024In the literature, there is no consensus regarding the surgical management of postaxial polydactyly, and few cases of polymetatarsia with polydactyly have been reported.... (Review)
Review
BACKGROUND
In the literature, there is no consensus regarding the surgical management of postaxial polydactyly, and few cases of polymetatarsia with polydactyly have been reported. Treatment of the complete deformity will prevent further foot and gait disorders.
OBJECTIVE
To identify literature relevant to the operative management of Y-shaped metatarsal with biphalangeal sixth toe and related skin and wound care to improve surgical treatment protocols from a clinical experience perspective.
DATA SOURCES
The authors searched several electronic databases in December 2022 for articles related to postaxial polysyndactyly in the feet and polymetatarsia. Databases searched included PubMed, SciELO, ScienceDirect, Cochrane Database of Systematic Reviews, and Google Scholar gray literature.
STUDY SELECTION
Two independent researchers conducted the searches and read the article titles and abstracts. Studies were included if they were narrative reviews, case studies, or observational studies; written in English or Spanish; and published between 2012 and 2022. Nonhuman studies were excluded. Studies that met the inclusion criteria were fully evaluated. Disagreements between reviewers were resolved by consensus, and when there was no consensus, a senior researcher was consulted.
DATA EXTRACTION
The following data were extracted from the included studies using a standardized form: author and year of publication, study type, number of participants, sex, polydactyly location, polymetatarsia, type of polydactyly, participants' history of hereditary associated diseases or malformations, treatment, removal criteria, and timing of surgery.
DATA SYNTHESIS
Authors evaluated 11 studies of postaxial polydactyly that included a total of 153 participants (64 men, 89 women). They also document their clinical experience with a surgical technique used in cases of bilateral postaxial polydactyly of the foot with a Y-shaped metatarsal with biphalangeal sixth toe.
CONCLUSIONS
Surgical correction with lateral removal of the sixth toe is a resolutive treatment to improve the functionality of the foot, its aesthetic appearance, and the patient's quality of life. Case-specific treatment should be applied and tailored to meet the individual needs. The biomechanics of gait and shoe problems in these patients improve with surgical treatment, without presenting secondary aesthetic problems in skin care.
Topics: Humans; Metatarsal Bones; Polydactyly; Toes; Female; Male; Fingers
PubMed: 38767428
DOI: 10.1097/ASW.0000000000000148 -
Clinical Genetics Jan 2024Skeletal ciliopathies are a heterogenous group of congenital disorders characterized by multiple internal abnormalities, and distinct radiographic presentation....
Skeletal ciliopathies are a heterogenous group of congenital disorders characterized by multiple internal abnormalities, and distinct radiographic presentation. Pathogenic variants in at least 30 cilia genes are known to cause skeletal ciliopathies. Here we report a fetus with an atypical skeletal ciliopathy phenotype and compound heterozygous variants in the RAB34 gene. The affected fetus had multiple malformations, including posterior neck edema, micrognathia, low-set and small ears, auricular hypoplasia, cleft lip and palate, short extremities, and a combination of rarely occurring pre- and postaxial polydactyly. Genome sequencing identified compound heterozygous variants in the RAB34 gene: maternal c.254T>C, p.(Ile85Thr), and paternal c.691C>T, p.(Arg231*) variants. Only the paternal variant was present in the unaffected sibling. Evidence in the literature indicated that Rab34 mice displayed a ciliopathy phenotype with cleft palate and polydactyly. These features were consistent with malformations detected in our patient supporting the pathogenicity of the identified RAB34 variants. Overall, this case report further expands genetic landscape of human ciliopathy syndromes and suggests RAB34 as a candidate gene for skeletal ciliopathies.
Topics: Humans; Animals; Mice; Cleft Lip; Cleft Palate; Ciliopathies; Polydactyly; Abnormalities, Multiple; Syndrome; rab GTP-Binding Proteins
PubMed: 37619988
DOI: 10.1111/cge.14419 -
Developmental Biology Jul 2016The chicken has been a particularly useful model for the study of craniofacial development and disease for over a century due to their relatively large size,... (Review)
Review
The chicken has been a particularly useful model for the study of craniofacial development and disease for over a century due to their relatively large size, accessibility, and amenability for classical bead implantation and transplant experiments. Several naturally occurring mutant lines with craniofacial anomalies also exist and have been heavily utilized by developmental biologist for several decades. Two of the most well known lines, talpid(2) (ta(2)) and talpid(3) (ta(3)), represent the first spontaneous mutants to have the causative genes identified. Despite having distinct genetic causes, both mutants have recently been identified as ciliopathic. Excitingly, both of these mutants have been classified as models for human craniofacial ciliopathies: Oral-facial-digital syndrome (ta(2)) and Joubert syndrome (ta(3)). Herein, we review and compare these two models of craniofacial disease and highlight what they have revealed about the molecular and cellular etiology of ciliopathies. Furthermore, we outline how applying classical avian experiments and new technological advances (transgenics and genome editing) with naturally occurring avian mutants can add a tremendous amount to what we currently know about craniofacial ciliopathies.
Topics: Abnormalities, Multiple; Animals; Animals, Genetically Modified; Cell Cycle Proteins; Cerebellum; Chick Embryo; Chickens; Ciliopathies; Craniofacial Abnormalities; Disease Models, Animal; Eye Abnormalities; Genes, Lethal; Genetic Association Studies; Humans; Kidney Diseases, Cystic; Maxillofacial Development; Mice; Mutation; Orofaciodigital Syndromes; Polydactyly; Poultry Diseases; Retina
PubMed: 26597494
DOI: 10.1016/j.ydbio.2015.10.024 -
Journal of Pediatric Orthopedics. Part B Jan 2023The effect of preaxial polydactyly of the foot on health-related quality of life (HR-QoL) has not been investigated in current literature. To improve counseling, we...
The effect of preaxial polydactyly of the foot on health-related quality of life (HR-QoL) has not been investigated in current literature. To improve counseling, we investigated HR-QoL in this patient group. A patient-control study was performed with children with preaxial polydactyly ( n = 20), adults with preaxial polydactyly ( n = 15), children with postaxial polydactyly ( n = 15) and healthy controls ( n = 62). The primary outcome was the difference in the foot-specific quality of life (FS-QoL) between children with preaxial polydactyly and adults with preaxial polydactyly, children with postaxial polydactyly and controls, using the Oxford Ankle and Foot Questionnaire (OxAFQ-c) and five foot-specific visual analogue scales (VAS). The secondary outcome was the difference in general HR-QoL, using the Pediatric Quality of Life Inventory (PedsQL). Outcomes were compared with the Mann-Whitney-U test. Comparison between children with preaxial polydactyly and healthy controls and postaxial polydactyly showed worse outcomes in all OxAFQ-c domains. The foot-specific VAS score was significantly worse in children with preaxial polydactyly compared to postaxial polydactyly and controls. Only the PedsQL physical domain showed a lower outcome in children with preaxial polydactyly than in postaxial polydactyly and controls. Children and adults with preaxial polydactyly scored the same in all domains. The OxAFQ-c and the PedsQL physical domain showed significantly worse outcomes in children with preaxial polydactyly compared with healthy controls and postaxial polydactyly. However, large variation was observed, suggesting large differences between patients. In children and adults, the foot and scar appearance seems to be the biggest problem, while diminished foot function seems less of an issue.
Topics: Child; Humans; Quality of Life; Polydactyly
PubMed: 36125884
DOI: 10.1097/BPB.0000000000001004 -
The Journal of Hand Surgery Sep 2017To introduce the "on-top plasty" technique and report our long-term outcomes.
PURPOSE
To introduce the "on-top plasty" technique and report our long-term outcomes.
METHODS
We evaluated 5 thumbs in 5 patients who underwent radial polydactyly reconstruction using the "on-top plasty" technique between 1998 and 2003. This technique was used when it was felt that neither thumb possessed adequate proximal and distal structures to provide a functional and aesthetically pleasing thumb. Our study group included 1 Flatt type III and 4 Flatt type VII thumbs. The average age at time of surgery was 1.4 years and at final follow-up was 13.5 years. Subjective patient evaluation, objective outcomes values, and validated patient-oriented outcome measures were obtained.
RESULTS
There was no soft tissue loss and union was achieved in all thumbs with no further surgery required in any thumb. Mean flexion-extension arc for the metacarpophalangeal joint was 60° (range, 10° extension to 70° flexion) and at the interphalangeal joint was 19° (range, 25° extension to 35° flexion). Mean percentage of age-matched norms for lateral, tripod, and tip pinch were 47.0%, 45.9%, and 47.8%, respectively. Mean grip strength was 54.2% of age-matched norm. The mean Pediatric Quality of Life Inventory (PedsQL) score for parent questionnaires was 89.0 and for teen/child questionnaires was 89.1. The Disabilities of the Arm, Shoulder, and Hand (DASH) questionnaire revealed a mean score of 4.3.
CONCLUSIONS
For patients with radial polydactyly in which neither thumb possesses adequate distal and proximal components, the on-top plasty is a reliable method of polydactyly reconstruction with durable results at longer than 10 years' follow-up.
TYPE OF STUDY/LEVEL OF EVIDENCE
Therapeutic V.
Topics: Adolescent; Child; Esthetics; Finger Joint; Hand; Humans; Metacarpophalangeal Joint; Patient Satisfaction; Polydactyly; Quality of Life; Range of Motion, Articular; Plastic Surgery Procedures; Thumb
PubMed: 28669530
DOI: 10.1016/j.jhsa.2017.05.029 -
International Journal of Molecular... Sep 2021The Hedgehog (HH) signalling pathway is one of the major pathways controlling cell differentiation and proliferation during human development. This pathway is complex,... (Review)
Review
The Hedgehog (HH) signalling pathway is one of the major pathways controlling cell differentiation and proliferation during human development. This pathway is complex, with HH function influenced by inhibitors, promotors, interactions with other signalling pathways, and non-genetic and cellular factors. Many aspects of this pathway are not yet clarified. The main features of Sonic Hedgehog (SHH) signalling are discussed in relation to its function in human development. The possible role of SHH will be considered using examples of holoprosencephaly and short-rib polydactyly (SRP) syndromes. In these syndromes, there is wide variability in phenotype even with the same genetic mutation, so that other factors must influence the outcome. mutations were the first identified genetic causes of holoprosencephaly, but many other genes and environmental factors can cause malformations in the holoprosencephaly spectrum. Many patients with SRP have genetic defects affecting primary cilia, structures found on most mammalian cells which are thought to be necessary for canonical HH signal transduction. Although SHH signalling is affected in both these genetic conditions, there is little overlap in phenotype. Possible explanations will be canvassed, using data from published human and animal studies. Implications for the understanding of SHH signalling in humans will be discussed.
Topics: Animals; Cilia; Ciliopathies; Hedgehog Proteins; Holoprosencephaly; Humans; Short Rib-Polydactyly Syndrome; Signal Transduction
PubMed: 34576017
DOI: 10.3390/ijms22189854 -
Journal of Pediatric OrthopedicsType B ulnar polydactyly is a common congenital hand difference and can be treated with either ligation or surgical excision. There is a paucity of literature, however,...
BACKGROUND
Type B ulnar polydactyly is a common congenital hand difference and can be treated with either ligation or surgical excision. There is a paucity of literature, however, evaluating long-term patient reported outcomes of these treatments. The purpose of this study was to compare the long-term outcomes after ligation and excision for the management of type B ulnar polydactyly.
METHODS
We created a database of patients who underwent treatment for type B ulnar polydactyly at a single pediatric health system from 2005 to 2014. We administered the Patient Reported Outcomes Measurement Information System (PROMIS) Pediatric Upper Extremity survey to patients through telephone and assessed for their satisfaction.
RESULTS
We successfully collected outcomes from 69 of 173 eligible patients treated in infancy (40% response rate). The mean follow-up was 11.1±2.5 years, and the average age of the participant at the time of the survey was 11.7±2.6 years of age. Twenty-four patients were treated with in-office ligation and 45 underwent formal surgical excision. Ten patients who were initially treated with ligation required future treatment with surgery because of symptomatic neuroma stump or persistent polydactyly (42%). Patients who were treated with surgical excision rated significantly higher satisfaction with their treatment than those who underwent ligation (P=0.003). Patients in both cohorts rated similar satisfaction with the esthetic appearance of their hand (P=0.07). There was no significant difference in PROMIS-rated hand function between the ligation and surgical cohort (P=0.765) and treated adolescents PROMIS scores were not statistically different than age-matched controls without polydactyly.
CONCLUSION
While ligation and surgical excision result in similar function and esthetics, patient satisfaction is higher after surgery. Furthermore, a significant number of patients fail ligation and ultimately undergo surgery for symptomatic neuroma or persistent polydactyly. Counseling parents of patients with type B ulnar polydactyly should include these considerations to assist them in selecting the best treatment for their child.
LEVEL OF EVIDENCE
Level III.
Topics: Adolescent; Child; Humans; Ligation; Neuroma; Polydactyly; Retrospective Studies; Ulna
PubMed: 35220338
DOI: 10.1097/BPO.0000000000002106 -
Environmental Science and Pollution... Mar 2021Evidence links exposure to maternal sulfur dioxide (SO) and the risk of limb defects have been inconsistent. To investigate associations between SO exposure during...
Evidence links exposure to maternal sulfur dioxide (SO) and the risk of limb defects have been inconsistent. To investigate associations between SO exposure during preconception and the first trimester and risks of polydactyly and syndactyly. The study population was acquired from the Maternal and Child Health Certificate Registry of Liaoning Province between 2010 to 2015, and consisted of 2605 polydactyly, 595 syndactyly cases, and 7950 controls. Ambient air pollutants levels were retrieved from air quality monitoring stations. We used multivariable logistic regression model to assess the adjusted odds ratios (ORs) and 95% confidence intervals (CIs). We found that exposure to increased SO concentrations was associated with polydactyly during both the 3 months preconception (OR = 3.76; 95% CI 2.61, 5.42; per 10 μg/m increment: OR = 1.07; 95% CI 1.04, 1.10) and the first trimester (OR = 2.03; 95% CI 1.41, 2.92; per 10 μg/m increment: OR = 1.07; 95% CI 1.03, 1.11). However, we only observed increased risk for syndactyly in the analysis of high vs. low quartiles (three months preconception: OR = 3.72; 95% CI 2.05, 6.75; first trimester: OR = 1.98; 95% CI 1.11, 3.51). Most results of analyses based on single-month exposure window generally showed similar positive associations. Additionally, these findings were broadly consistent across subgroups and sensitivity analyses. Maternal SO exposure increase the risk of polydactyly and syndactyly.
Topics: Air Pollutants; Air Pollution; Case-Control Studies; Child; China; Female; Humans; Maternal Exposure; Particulate Matter; Polydactyly; Pregnancy; Sulfur Dioxide; Syndactyly
PubMed: 33118065
DOI: 10.1007/s11356-020-11351-5 -
Environmental Research Aug 2020The number of studies on air pollution with birth defects as the primary outcome has increased dramatically over the past two decades, but the potential role of specific...
BACKGROUND
The number of studies on air pollution with birth defects as the primary outcome has increased dramatically over the past two decades, but the potential role of specific air pollutants in congenital limb anomalies remains unclear.
OBJECTIVES
To evaluate associations between preconception and first-trimester PM exposure and polydactyly and syndactyly in a population-based case-control study.
METHODS
Polydactyly cases (n = 2605), syndactyly cases (n = 595), and controls without any birth defects (n = 7950) born between 2010 and 2015 were selected from the Maternal and Child Health Certificate Registry of Liaoning Province. The monthly mean PM concentrations were obtained from 75 air monitoring stations, and the exposure assessment was based on the mean concentration of all stations in mother's residential city. A multivariable logistic regression model was constructed to calculate adjusted odds ratios (aORs) and 95% confidence intervals (CIs).
RESULTS
PM exposure was positively associated with the risks of polydactyly (preconception: aOR = 1.95, 95% CI 1.56-2.45, aOR = 1.06, 95% CI 1.01-1.10 [per 10-μg/m increment]; first-trimester: aOR = 2.51, 95% CI 2.00-3.15) and syndactyly (preconception: aOR = 2.86, 95% CI 1.98-4.13, aOR = 1.11, 95% CI 1.03-1.20 [per 10-μg/m increment]; first-trimester: aOR = 3.10, 95% CI 2.11-4.56). Analyses based on single month exposure windows basically showed similar positive associations. Additionally, these findings were robust in sensitivity analyses and broadly consistent across subgroups.
CONCLUSION
Our study suggest that preconception and first-trimester PM exposures are related to increased risks of polydactyly and syndactyly.
Topics: Air Pollutants; Air Pollution; Case-Control Studies; Child; China; Female; Humans; Maternal Exposure; Particulate Matter; Polydactyly; Pregnancy; Syndactyly
PubMed: 32416360
DOI: 10.1016/j.envres.2020.109643 -
Molecular Medicine Reports Jun 2021Short rib‑polydactyly syndrome type III (SRPS3) is a lethal perinatal skeletal disorder consisting of polydactyly and multi‑system organ abnormalities. To further...
Short rib‑polydactyly syndrome type III (SRPS3) is a lethal perinatal skeletal disorder consisting of polydactyly and multi‑system organ abnormalities. To further assess the pathogenicity of two pairs of compound heterozygotes and to search for novel molecular etiology, X‑rays and hematoxylin and eosin staining were conducted in three cases: Two retrospective samples and a newly identified patient with SRPS3. In addition, next‑generation sequencing was used to evaluate a fetus with SRPS3. Typical radiological features of the three cases included a long, narrow thorax with short ribs, shortened long bones, spurs at the metaphysis of the long bones and congenital bowing of the femurs. The present study also observed atypical histopathological changes, together with the absence of proliferation and abundance of retaining cartilage in the primary spongiosum. In addition, two novel compound heterozygous variants were identified in the dynein cytoplasmic 2 heavy chain 1 () gene of the fetus: NM_001080463.1, c.6591_6593delTGG (chr11:103055738‑103055740); NM_001080463.1, c.7883T>C (chr11:103070000). The findings of the present study provided further confirmation of the pathogenicity of two compound heterozygous variants in two retrospective samples and identified novel compound heterozygous variants. These findings may improve our knowledge of the histopathological and radiological changes in patients with SRPS3 and the relative effects of variants. The findings of the present study may facilitate the clinical and molecular diagnosis of SRPS3.
Topics: Adult; Cytoplasmic Dyneins; Female; Fetus; High-Throughput Nucleotide Sequencing; Humans; Pedigree; Radiography; Retrospective Studies; Short Rib-Polydactyly Syndrome
PubMed: 33846808
DOI: 10.3892/mmr.2021.12065