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BMC Pregnancy and Childbirth Mar 2024To describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016-2020.
OBJECTIVE
To describe the prevalence and epidemiology of congenital polydactyly and syndactyly in Hunan Province, China, 2016-2020.
METHODS
Data were obtained from the Birth Defects Surveillance System in Hunan Province, China, 2016-2020. Prevalence of birth defects (polydactyly or syndactyly) is the number of cases per 1000 births (unit: ‰). Prevalence and 95% confidence intervals (CI) were calculated by the log-binomial method. Chi-square trend tests (χ) were used to determine trends in prevalence by year. Crude odds ratios (ORs) were calculated to examine the association of each demographic characteristic with polydactyly and syndactyly.
RESULTS
Our study included 847,755 births, and 14,459 birth defects were identified, including 1,888 polydactyly and 626 syndactyly cases, accounting for 13.06% and 4.33% of birth defects, respectively. The prevalences of total birth defects, polydactyly, and syndactyly were 17.06‰ (95%CI: 16.78-17.33), 2.23‰ (95%CI: 2.13-2.33), and 0.74‰ (95%CI: 0.68-0.80), respectively. Most polydactyly (96.77%) and syndactyly (95.69%) were diagnosed postnatally (within 7 days). From 2016 to 2020, the prevalences of polydactyly were 1.94‰, 2.07‰, 2.20‰, 2.54‰, and 2.48‰, respectively, showing an upward trend (χ = 19.48, P < 0.01); The prevalences of syndactyly were 0.62‰, 0.66‰, 0.77‰, 0.81‰, and 0.89‰, respectively, showing an upward trend (χ = 10.81, P = 0.03). Hand polydactyly (2.26‰ vs. 1.33‰, OR = 1.69, 95%CI: 1.52-1.87) and hand syndactyly (0.43‰ vs. 0.28‰, OR = 1.42, 95%CI: 1.14-1.76) were more common in males than females. Polydactyly (2.67‰ vs. 1.93‰, OR = 1.38, 95%CI: 1.26-1.51) and syndactyly (0.91‰ vs. 0.62‰, OR = 1.47, 95%CI: 1.26-1.72) were more common in urban areas than in rural areas. Compared to maternal age 25-29, hand polydactyly was more common in maternal age < 20 (2.48‰ vs. 1.74‰, OR = 1.43, 95%CI: 1.01-2.02) or ≥ 35 (2.25‰ vs. 1.74‰, OR = 1.30, 95%CI: 1.12-1.50).
CONCLUSION
In summary, we have described the prevalence and epidemiology of polydactyly and syndactyly from hospital-based surveillance in Hunan Province, China, 2016-2020. Our findings make some original contributions to the field, which may be valuable for future research.
Topics: Male; Female; Humans; Adult; Polydactyly; Syndactyly; Maternal Age; China; Prevalence; Congenital Abnormalities
PubMed: 38521899
DOI: 10.1186/s12884-024-06417-y -
The Journal of Hand Surgery, European... Dec 2023We proposed a modification of the Rotterdam classification for thumb triplication and tetraplication. Twenty-one patients were included (24 cases of thumb triplication...
We proposed a modification of the Rotterdam classification for thumb triplication and tetraplication. Twenty-one patients were included (24 cases of thumb triplication and four cases of tetraplication). These were analysed and classified according to a modification of the Rotterdam classification involving three steps; from the radial to ulnar side, we first identified each thumb on radiographs and gross appearance to divide into triplication or tetraplication. Second, we define the levels of duplication and established the nomenclature. Third, the aberrant features and their location were assigned for each thumb, again from radial to ulnar side. A surgical algorithm was also proposed. This modified classification may be helpful for characterizing the rare conditions of thumb triplication and tetraplication for use in patient and management and communication between surgeons. III.
Topics: Humans; Thumb; Polydactyly; Plastic Surgery Procedures; Radiography; Surgeons
PubMed: 37211793
DOI: 10.1177/17531934231173111 -
The Journal of Hand Surgery Mar 2020Thumb polydactyly and thumb hypoplasia are generally regarded as separate clinical entities. However, several case reports indicate that hypoplasia of both the thumb...
PURPOSE
Thumb polydactyly and thumb hypoplasia are generally regarded as separate clinical entities. However, several case reports indicate that hypoplasia of both the thumb and the radius can occur in patients with thumb polydactyly and improved understanding of the genetics of the developing upper limb may give an embryologic explanation for this occurrence. Our hypothesis was that patients with preaxial polydactyly can have ipsilateral thumb hypoplasia that may not be recognized until after surgical reconstruction of the extra digit.
METHODS
We searched our surgical database for all procedures performed on patients with a diagnosis of preaxial polydactyly between 2002 and 2014. We reviewed the medical record for demographic data, surgical procedures, and follow-up information. In addition, all available radiographs were reviewed. Through this, we identified patients with a diagnosis of ipsilateral thumb hypoplasia, including when in the course of treatment the diagnosis was made, and any related subsequent procedures.
RESULTS
We reviewed 132 patients who underwent reconstruction of thumb polydactyly, 10 of whom were identified as having evidence of ipsilateral thumb hypoplasia, an incidence of 8.2%. The diagnosis of thumb hypoplasia was made before surgery in 3 of the 10 patients. One additional patient was noted to have a duplicate thumb on one side and a hypoplastic thumb on the contralateral side.
CONCLUSIONS
This study supports the hypothesis that children with preaxial polydactyly can have ipsilateral thumb hypoplasia that may not be noted before surgery. In this study group, 8% of patients with preaxial polydactyly had ipsilateral hypoplasia.
TYPE OF STUDY/LEVEL OF EVIDENCE
Prognostic IV.
Topics: Child; Hand Deformities; Humans; Polydactyly; Radius; Thumb
PubMed: 31932081
DOI: 10.1016/j.jhsa.2019.11.001 -
The Journal of Hand Surgery, European... Jun 2022
Topics: Humans; Polydactyly; Toes
PubMed: 35128992
DOI: 10.1177/17531934221076291 -
Journal of Orthopaedic Surgery and... Aug 2021Thumb duplication is a very common congenital malformation. This study describes and compares the phenotypic manifestations of polydactyly between southwest and...
BACKGROUND
Thumb duplication is a very common congenital malformation. This study describes and compares the phenotypic manifestations of polydactyly between southwest and northeast China. However, previous studies had a limited sample size. Therefore, this study used a large sample.
METHODS
A total of 3549 well-characterized thumb duplication cases were divided into group A (southwest China) and group B (northeast China).
RESULTS
In group A and group B, the left-to-right ratio was 1:1.5 and 1:1.75, respectively, and the female-to-male ratio was 1:1.5 and 1:1.58, respectively.
CONCLUSIONS
There were no significant differences in gender distribution or the distribution of left and right polydactyly between the two groups, but the distribution of bilateral polydactyly was significantly different.
Topics: China; Female; Humans; Male; Polydactyly; Thumb
PubMed: 34372898
DOI: 10.1186/s13018-021-02567-3 -
Plastic and Reconstructive Surgery Jul 2023Surgical outcomes of duplicated thumbs differ depending on the branching type. The authors developed a new classification system and report surgical outcomes with an...
BACKGROUND
Surgical outcomes of duplicated thumbs differ depending on the branching type. The authors developed a new classification system and report surgical outcomes with an average 10.2-year follow-up.
METHODS
A total of 529 patients with 562 duplicated thumbs were reviewed. Surgical anatomies were compared with radiographs, and then a new classification system was developed based on branching level and bone shape observed on the radiograph: distal type (D-type), including Wassel types I and II; proximal type (P-type), including Wassel types Ⅲ and Ⅳ, and four subdivisions (Po, Pa, Pb, and Pc) according to bone structure; and metacarpal type (MC-type), including Wassel types V and VI. All hands were assessed using the Japanese Society for Surgery of the Hand evaluation form, and factors causing poor outcomes were analyzed.
RESULTS
There were 25% D-type, 59% P-type, and 14% MC-type hands; 2% of hands were not classified. Overall, 351 hands (63%) were directly assessed when patients reached 5 years of age. Seventeen percent of hands had fair results. Good results were achieved in 90% of D- and Po-type hands. Pa-, Pb-, Pc-, and MC-type hands had lower Japanese Society for Surgery of the Hand scores than did D- or Po-type hands. Pa- and Pb-type hands tended to develop interphalangeal joint malalignment and instability, whereas Pc- and MC-type hands developed disorders in the metacarpophalangeal joint with growth.
CONCLUSIONS
The authors' new classification system clarifies the potential pitfalls for each type of duplicated thumb. More than 90% of D- and Po-type hands obtained good results. Care should be taken with interphalangeal joint reconstruction for Pa- and Pb-type hands. Meticulous reconstruction of the metacarpophalangeal joint is essential for Pc- and MC-type hands. This analysis provides important information for surgeons and patients.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Risk, IV.
Topics: Humans; Thumb; Polydactyly; Lead; Plastic Surgery Procedures; Hand Deformities; Treatment Outcome
PubMed: 36780352
DOI: 10.1097/PRS.0000000000010267 -
BioMed Research International 2018Clinicians and scientists interested in developmental biology have viewed preaxial polydactyly (PPD) and longitudinal preaxial ray deficiency (LPAD) as two different... (Review)
Review
Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis.
Clinicians and scientists interested in developmental biology have viewed preaxial polydactyly (PPD) and longitudinal preaxial ray deficiency (LPAD) as two different entities. Point mutations and duplications in the zone of polarizing activity regulatory sequence (ZRS) are associated with anterior ectopic expression of Sonic Hedgehog (SHH) in the limb bud and usually result in a PPD phenotype. However, some of these mutations/duplications also have LPAD in the phenotype. This unusual PPD-LPAD association in ZRS mutations/duplications has not been specifically reviewed in the literature. The author reviews this unusual entity and gives insights regarding its pathogenesis.
Topics: Animals; Disease Models, Animal; Humans; Mutation; Polydactyly; Regulatory Sequences, Nucleic Acid
PubMed: 29651423
DOI: 10.1155/2018/1573871 -
The Journal of Hand Surgery, European... May 2021Although the Wassel-Flatt classification system has been widely used for radial polydactyly, it has some limitations. We modified the classification system by...
Although the Wassel-Flatt classification system has been widely used for radial polydactyly, it has some limitations. We modified the classification system by introducing the hypoplastic types and refining the definition of triphalangeal thumb without changing the main structure of the original classification system. A total of 200 consecutive duplicated thumbs of 183 patients treated surgically from June 2016 to June 2018 were included. We evaluated intra-observer and inter-observer reliability using the kappa coefficient in the modified and original Wassel-Flatt classification systems (three examiners evaluated each case twice, with an interval of 4 weeks). We also evaluated the surgical methods according to the types of deformity in the modified and original Wassel-Flatt classification systems. The modified Wassel-Flatt classification system had good inter-observer reliability and provides useful information for determining the surgical plan according to the types of radial polydactyly. IV.
Topics: Hand Deformities; Hand Deformities, Congenital; Humans; Polydactyly; Reproducibility of Results; Thumb
PubMed: 33423580
DOI: 10.1177/1753193420981541 -
Critical Reviews in Eukaryotic Gene... 2021Sporadic thumb polydactyly with nonfamily inheritance is the most common in clinical work. This study focused on characterization of GLI3 gene function. We constructed...
Sporadic thumb polydactyly with nonfamily inheritance is the most common in clinical work. This study focused on characterization of GLI3 gene function. We constructed the plasmid with p.m948i point mutation of GLI3 and transfected it into mouse embryonic fibroblasts (MEFs) to study the effects and potential mechanism of the mutant gene. The RNA of GLI3 mutant cells was extracted and analyzed by transcriptome sequencing and bioinformatics. Finally, we constructed cbx3 overexpression plasmid, designed siRNA for gene silencing, and transfected it into the MEFs. Cell proliferation and invasion ability of the MEFs were examined. The results showed that there were 2,452 differential expression genes in the MEFs transfected with GLI3 mutant plasmid compared with wild-type MEFs. The results of differential expression analysis showed that the cbx3 gene was significantly up-regulated. Overexpression of cbx3 in MEFs promoted cell proliferation and invasion, while siRNA knockdown of cbx3 expression reduced proliferation and invasion. GLI3 gene mutation in MEFs resulted in cbx3 up-regulation and promoted MEF proliferation and invasion. This study further clarified the potential function of GLI3 in limb development, established a new relationship between gene mutation and polydactyly, and preliminarily clarified the possible signal pathway, all of which have laid a foundation for further study on the etiology of polydactyl.
Topics: Animals; Fibroblasts; Mice; Nerve Tissue Proteins; Pedigree; Polydactyly; Zinc Finger Protein Gli3
PubMed: 34936293
DOI: 10.1615/CritRevEukaryotGeneExpr.2021038555 -
Nagoya Journal of Medical Science Nov 2022On-top plasty may be the best option for reconstructing atypical radial polydactyly, consisting of a developed distal portion in one thumb and a developed proximal... (Review)
Review
On-top plasty may be the best option for reconstructing atypical radial polydactyly, consisting of a developed distal portion in one thumb and a developed proximal portion in the other thumb. However, it is unclear if patients can gain thumb function corresponding to the reconstructed appearance. We performed a retrospective bibliographic review to summarize the current literature and present our department's on-top plasty experiences. Over the last ten years, our department performed three on-top plasty radial polydactyly reconstructions. We surveyed the appearance and use of the reconstructed thumb and the patient's satisfaction level during postoperative follow-up. We also retrieved published case reports describing on-top plasty for polydactyly reconstruction to compare with our cases. Our patients had an acceptable thumb appearance and were satisfied with the gained function of the thumb. However, two patients required revision surgery. We found 11 studies in the literature describing on-top plasty for polydactyly treatment, four of which reported a limited range of thumb motion, but no patient or their family complained about the result. Most patients who undergo on-top plasty for radial polydactyly can expect a fair to good appearance after surgery. Although instability or limitation of the joint arc is possible, the reconstruction satisfies patients regarding function and appearance.
Topics: Humans; Thumb; Retrospective Studies; Plastic Surgery Procedures; Polydactyly
PubMed: 36544612
DOI: 10.18999/nagjms.84.4.705