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The Journal of the American Academy of... Feb 2018Polydactyly is one of the most common congenital hand deformities managed by orthopaedic surgeons. It is most often found in isolation; however, rarely, it may be... (Review)
Review
Polydactyly is one of the most common congenital hand deformities managed by orthopaedic surgeons. It is most often found in isolation; however, rarely, it may be associated with genetic syndromes. Polydactyly is classified as postaxial, preaxial, or central depending on the radioulnar location of the duplicated digits. Postaxial polydactyly, which affects the ulnar side of the hand, is most common and is typically managed with excision or suture ligation of the supernumerary digit. Preaxial polydactyly, which affects the thumb or radial side of the hand, often requires reconstructive techniques to ensure a functional, stable thumb. Central polydactyly is much less common, and reconstruction can be challenging.
Topics: Fingers; Hand Deformities, Congenital; Humans; Orthopedic Procedures; Polydactyly; Plastic Surgery Procedures
PubMed: 29309292
DOI: 10.5435/JAAOS-D-16-00139 -
JBJS Reviews May 2022» Radial polydactyly is one of the most common congenital anomalies of the hand, with an incidence of 0.08 to 1.40 per 1,000 live births; it requires surgical treatment...
» Radial polydactyly is one of the most common congenital anomalies of the hand, with an incidence of 0.08 to 1.40 per 1,000 live births; it requires surgical treatment early in life.» Polydactyly occurs during weeks 5, 6, 7, and 8 of embryogenesis, principally due to misregulation of the sonic hedgehog protein within the developing limb bud.» The Flatt classification system of preaxial polydactyly (types I to VII), as published by Wassel, categorizes preaxial polydactyly based on osseous abnormalities, but it has substantial limitations.» For improved function and appearance, preaxial polydactyly ideally requires surgical intervention at an early age (between 1 and 2 years of age) before the development of fine motor skills.
Topics: Humans; Infant; Child, Preschool; Polydactyly; Thumb
PubMed: 37545004
DOI: 10.2106/JBJS.RVW.21.00214 -
The Journal of Hand Surgery, European... May 2021A significant lesson for those assessing the work of others stems from the necessity to review what has been written before. It remains a common but human error to...
A significant lesson for those assessing the work of others stems from the necessity to review what has been written before. It remains a common but human error to misinterpret or misrepresent the words of others and indeed, for inconsistencies in these to become apparent. This is certainly so in the field of congenital hand surgery and especially so with discussion of thumb duplication/polydactyly. Many of the presentations in this journal issue deal with the subject of thumb duplication. All involve a consideration of classification despite an emphasis on investigative measures and techniques in some. For ease of reading, I will place my comments on these articles within the categories of classification, investigations assisting management decisions and alternative techniques, though the contents of each article are not necessarily restricted to these categories.
Topics: Humans; Polydactyly; Plastic Surgery Procedures; Thumb
PubMed: 33626950
DOI: 10.1177/1753193421994778 -
Advances in Experimental Medicine and... 2018Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious... (Review)
Review
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). About two thirds of patients have postaxial polydactyly, and sometimes syndactyly, brachydactyly, and/or clinodactyly may be present. Hypogonadism and renal involvement occur in about 40%, mental retardation in about 50%, and truncal obesity in about 70%; it is present early, along with insulin resistance, type 2 diabetes, dyslipidemia, and hypertension. Vision becomes markedly impaired by about age 30 years. The BBS is genetically heterogeneous entity with considerable phenotypic variability. Other associated problems include CNS-related ataxia, abnormal gait, and facial hypotonia, as well as anomalies such as high palate, hearing loss, and cardiac malformations. In males, there is oligospermia, leading to infertility. Around 50–80% of BBS patients have renal malformations (like cyst, agenesis or scarring) and renal dysfunction leading to end-stage renal disease. There are no pigmentary changes before the age of 1–2 years. Later, subtle pigmentary changes appear in the macula or peripapillary area. Several years later, pigments appear in the equatorial region, along with attenuation of retinal blood vessels and waxy pallor of the optic disc. Eventually, the macula may show atrophic changes (Figs. 33.1, 33.2 and 33.3). Electroretinography (ERG) shows involvement of rods and cones and is abnormal even before the fundus shows changes. A perimacular hyperfluorescent ring can be seen.
Topics: Bardet-Biedl Syndrome; Diabetes Mellitus, Type 2; Electroretinography; Female; Humans; Intellectual Disability; Male; Polydactyly
PubMed: 30578506
DOI: 10.1007/978-3-319-95046-4_33 -
American Journal of Orthopedics (Belle... May 2015Polydactyly is considered either the most or second most (after syndactyly) common congenital hand abnormality. Polydactyly is not simply a duplication; the anatomy is... (Review)
Review
Polydactyly is considered either the most or second most (after syndactyly) common congenital hand abnormality. Polydactyly is not simply a duplication; the anatomy is abnormal with hypoplastic structures, abnormally contoured joints, and anomalous tendon and ligament insertions. There are many ways to classify polydactyly, and surgical options range from simple excision to complicated bone, ligament, and tendon realignments. The prevalence of polydactyly makes it important for orthopedic surgeons to understand the basic tenets of the abnormality.
Topics: Hand Deformities, Congenital; Humans; Polydactyly
PubMed: 25950541
DOI: No ID Found -
Clinics in Podiatric Medicine and... Jan 2022This article explores different pediatric forefoot deformities including syndactyly, polydactyly, macrodactyly, curly toe, and congenital hallux varus. The epidemiology... (Review)
Review
This article explores different pediatric forefoot deformities including syndactyly, polydactyly, macrodactyly, curly toe, and congenital hallux varus. The epidemiology and genetic background are reviewed for each condition. Preferred treatment options and recommended surgical techniques are discussed with review of the current literature.
Topics: Child; Foot Deformities; Hallux; Humans; Polydactyly
PubMed: 34809796
DOI: 10.1016/j.cpm.2021.08.002 -
Clinical Genetics Nov 2017GLI3 mutations are known to be associated with nine syndromes/conditions in which polydactyly is a feature. In this review, the embryology, pathogenesis, and animal... (Review)
Review
GLI3 mutations are known to be associated with nine syndromes/conditions in which polydactyly is a feature. In this review, the embryology, pathogenesis, and animal models of GLI3-related polydactyly are discussed first. This is followed by a detailed review of the genotype-phenotype correlations. Based on our review of the literature and our clinical experiences, we recommend viewing GLI3-related syndromes/conditions as four separate entities; each characterized by a specific pattern of polydactyly. These four entities are: the preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister-Hall syndrome (PHS), and oral-facial-digital overlap syndrome. We also provide illustrative clinical examples from our practice including a family with a novel GLI3 mutation causing PHS. The review also introduces the term 'Forme Fruste' preaxial polydactyly and gives several conclusions/recommendations including the recommendation to revise the current criteria for the clinical diagnosis of PHS.
Topics: Animals; Disease Models, Animal; Genetic Association Studies; Humans; Polydactyly; Syndrome; Zinc Finger Protein Gli3
PubMed: 28224613
DOI: 10.1111/cge.12952 -
American Journal of Obstetrics and... Dec 2019
Topics: Acrocephalosyndactylia; Amniocentesis; Chorionic Villi Sampling; Ciliary Motility Disorders; Diagnosis, Differential; Encephalocele; Female; Genetic Testing; Humans; Imaging, Three-Dimensional; Microarray Analysis; Pallister-Hall Syndrome; Polycystic Kidney Diseases; Polydactyly; Pregnancy; Prognosis; Retinitis Pigmentosa; Sex Distribution; Smith-Lemli-Opitz Syndrome; Trisomy 13 Syndrome; Ultrasonography, Prenatal
PubMed: 31787158
DOI: 10.1016/j.ajog.2019.09.023 -
Primary Care Dec 2021Pediatric patients are frequently evaluated in primary care clinics. Thus, there exists a need to understand common pediatric problems and to acquire a degree of... (Review)
Review
Pediatric patients are frequently evaluated in primary care clinics. Thus, there exists a need to understand common pediatric problems and to acquire a degree of familiarity with pediatric procedures. This article will review techniques and the current evidence for frequently performed pediatric procedures, including umbilical granuloma chemocautery, frenotomy, suture ligation of type B postaxial polydactyly, reduction of nursemaid's elbow, hair tourniquet removal, and tympanometry.
Topics: Child; Elbow Joint; Fingers; Humans; Joint Dislocations; Polydactyly
PubMed: 34752279
DOI: 10.1016/j.pop.2021.07.010 -
Acta Orthopaedica Feb 2018Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. In... (Review)
Review
Background and purpose - Preaxial polydactyly of the foot is a rare malformation and clinicians are often unfamiliar with the associated malformations and syndromes. In order to give guidelines for diagnostics and referral to a clinical geneticist, we provide an overview of the presentation using a literature review and our own patient population. Patients and methods - The literature review was based on the Human Phenotype Ontology (HPO) project. From the HPO dataset, all phenotypes describing preaxial polydactyly were obtained and related diseases were identified and selected. An overview was generated in a heatmap, in which the phenotypic contribution of 12 anatomical groups to each disease is displayed. Clinical cases were obtained from our hospital database and were reviewed in terms of phenotype, genotype, heredity, and diagnosed syndromes. Results - From the HPO dataset, 21 diseases were related to preaxial polydactyly of the foot. The anatomical groups with the highest phenotypic contribution were lower limb, upper limb, and craniofacial. From our clinical database, we included 76 patients with 9 different diseases, of which 27 had a GLI3 mutation. Lower limb malformations (n = 55), upper limb malformations (n = 59), and craniofacial malformations (n = 32) were most frequently observed. Malformations in other anatomical groups were observed in 27 patients. Interpretation - Preaxial polydactyly of the foot often presents with other upper and lower limb malformations. In patients with isolated preaxial polydactyly of the foot, referral to a clinical geneticist is not mandatory. In patients with additional malformations, consultation with a clinical geneticist is recommended. When additional limb malformations are present, analysis of GLI3 is most feasible.
Topics: Female; Foot; Foot Deformities, Congenital; Humans; Male; Mutation; Polydactyly
PubMed: 28946786
DOI: 10.1080/17453674.2017.1383097