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Current Pediatric Reviews 2018Thumb duplication, also called radial or preaxial polydactyly, is classified as an alteration of the radio-ulnar axis in the formation and differentiation of the hand... (Review)
Review
BACKGROUND
Thumb duplication, also called radial or preaxial polydactyly, is classified as an alteration of the radio-ulnar axis in the formation and differentiation of the hand plate, according to the Oberg, Manske and Tonkin classification.
OBJECTIVE
Radial polydactyly is a common upper limb malformation. This paper is a comprehensive analysis of radial polydactyly, its genetic explanation, classification, surgical techniques, functional results, as well as present and future scientific evidence on this congenital pathology.
CONCLUSIONS
Radial polydactyly occurs most frequently as an isolated defect, but it may also occur in association with other abnormalities, or as part of a syndrome. The Wassel classification is the universal classification for thumb duplication. One of the limitations of it is the misclassification of the immature epiphysis. The Wassel classification not only refers to the pathoanatomy of the polydactyly but also guides the selection of various surgical techniques. Three well-defined surgical objectives should be ensured: thumb alignment, stability, and an acceptable final esthetic appearance. Tada score is a validated functional scale that takes into account the most common and limiting complications, namely clinodactyly and instability. Based on some recent strong research evidence, the JSSH assessment system provides the most reliable outcome of scores. More studies are required to provide evidence-based conclusions regarding the treatment of radial polydactyly.
Topics: Genetic Markers; Humans; Polydactyly; Plastic Surgery Procedures; Thumb; Treatment Outcome
PubMed: 29366421
DOI: 10.2174/1573396314666180124102012 -
The Quarterly Review of Biology Mar 2017The occurrence of supernumerary digits or toes in humans and other tetrapods has attracted general interest since antiquity and later influenced scientific theories of... (Review)
Review
The occurrence of supernumerary digits or toes in humans and other tetrapods has attracted general interest since antiquity and later influenced scientific theories of development, inheritance, and evolution. Seventeenth-century genealogical studies of polydactyly were at the beginning of an understanding of the rules of inheritance. Features of polydactyly were also part of the classical disputes on the nature of development, including the preformation-versus-epigenesis and the atavism-versus-malformation debates. In the evolutionary domain, polydactyly was used in the criticism of the gradualist account of variation underlying Darwin’s theory. Today, extra digit formation plays a role in the conceptualization of gene regulation and pattern formation in vertebrate limb evolution. Recent genetic, experimental, and modeling accounts of extra digit formation highlight the existence of nongradual transitions in phenotypic states, suggesting a distinction between continuous and discontinuous variation in evolution. Unless otherwise noted, all translations are our own.
Topics: Animals; Biological Evolution; Epigenesis, Genetic; Genetic Predisposition to Disease; Heredity; Humans; Inheritance Patterns; Pedigree; Phenotype; Polydactyly
PubMed: 29558608
DOI: 10.1086/690841 -
Birth Defects Research Jan 2018Postaxial polydactyly, type B is the most common type of polydactyly. The vestigial sixth finger is attached by a narrow neurovascular pedicle to the lateral aspect of...
BACKGROUND
Postaxial polydactyly, type B is the most common type of polydactyly. The vestigial sixth finger is attached by a narrow neurovascular pedicle to the lateral aspect of the hand or foot at the level of the metacarpal-phalangeal joint or the metatarsal-phalangeal joint. The occurrence of this type of polydactyly varies among racial groups, by sex and sidedness. Postaxial polydactyly, type A is a fully developed extra digit on the lateral aspect of the hand or foot with a bifid fifth or sixth metacarpal/metatarsal and is much less common.
METHODS
In a malformations surveillance program, the frequency in racial groups, sex ratio and the frequency of other anomalies can be established.
RESULTS
Five hundred forty-five affected infants were identified from 1972 to 2012 in the surveillance of 289,365 liveborn and stillborn infants and elective terminations because of fetal anomalies detected prenatally. Postaxial polydactyly, type B was an isolated anomaly in 95% of the affected newborns. There were more affected males than females. Black infants were affected more often than White infants: 0.91/100 vs. 0.035/100 infants. The dangling extra digit was much more common in the hands than in the feet.
CONCLUSIONS
Postaxial polydactyly, type B is almost always an isolated, mild malformation with no medical significance. Postaxial polydactyly, types B and A occurred in several infants, suggesting that either the underlying mutation(s) can cause both types of postaxial polydactyly or that some affected infants have more than one mutation. Autosomal dominant inheritance with variable expressivity is postulated.
Topics: Female; Fingers; Foot; Foot Deformities, Congenital; Hand; Hand Deformities, Congenital; Humans; Infant; Infant, Newborn; Male; Metacarpophalangeal Joint; Metatarsal Bones; Polydactyly; Toes
PubMed: 29377639
DOI: 10.1002/bdr2.1184 -
Revista Paulista de Pediatria : Orgao... 2023To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the...
OBJECTIVE
To evaluate radiological (gestational and perinatal) and neonatal signs of patients with Patau syndrome and semilobar holoprosencephaly, as well as to report the association of both pathologies.
CASE DESCRIPTION
This case report is about a female infant, born at term with trisomy of the chromosome 13 and semilobar holoprosencephaly, with thalamic fusion and a single cerebral ventricle, in addition to several other changes that worsened the patient's prognosis.
COMMENTS
Chromosome 13 trisomy is a genetic alteration that leads to the symptoms that determines Patau syndrome. In this syndrome, cardiovascular, urogenital, central nervous system, facial structure and intellectual impairment are common, in addition to problems in limb formation, such as decreased humerus and femur length, polydactyly, hypotelorism and low ear implantation. It is estimated, however, that holoprosencephaly is present in only 24 to 45% of the patients with trisomy 13.
Topics: Infant, Newborn; Pregnancy; Infant; Humans; Female; Holoprosencephaly; Trisomy 13 Syndrome; Trisomy; Polydactyly; Mutation; Chromosomes, Human, Pair 13
PubMed: 36921175
DOI: 10.1590/1984-0462/2023/41/2022027 -
European Journal of Human Genetics :... Nov 2023Polydactyly is the most common limb malformation that occurs in 1.6-10.6 per one thousand live births, with incidence varying with ancestry. The underlying gene has been...
Polydactyly is the most common limb malformation that occurs in 1.6-10.6 per one thousand live births, with incidence varying with ancestry. The underlying gene has been identified for many of the ~100 syndromes that include polydactyly. While for the more common form, nonsydromic polydactyly, eleven candidate genes have been reported. We investigated the underlying genetic cause of autosomal recessive nonsyndromic postaxial polydactyly in four consanguineous Pakistani families. Some family members with postaxial polydactyly also present with syndactyly, camptodactyly, or clinodactyly. Analysis of the exome sequence data revealed two novel homozygous frameshift deletions in EFCAB7: [c.830delG;p.(Gly277Valfs*5)]; in three families and [c.1350_1351delGA;p.(Asn451Phefs*2)] in one family. Sanger sequencing confirmed that these variants segregated with postaxial polydactyly, i.e., family members with postaxial polydactyly were found to be homozygous while unaffected members were heterozygous or wild type. EFCAB7 displays expressions in the skeletal muscle and on the cellular level in cilia. IQCE-EFCAB7 and EVC-EVC2 are part of the heterotetramer EvC complex, which is a positive regulator of the Hedgehog (Hh) pathway, that plays a key role in limb formation. Depletion of either EFCAB7 or IQCE inhibits induction of Gli1, a direct Hh target gene. Variants in IQCE and GLI1 have been shown to cause nonsyndromic postaxial polydactyly, while variants in EVC and EVC2 underlie Ellis van Creveld and Weyers syndromes, which include postaxial polydactyly as a phenotype. This is the first report of the involvement of EFCAB7 in human disease etiology.
Topics: Humans; Hedgehog Proteins; Zinc Finger Protein GLI1; Polydactyly; Fingers; Limb Deformities, Congenital
PubMed: 37684519
DOI: 10.1038/s41431-023-01450-5 -
Journal of Medical Case Reports Apr 2022Bardet-Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod-cone...
BACKGROUND
Bardet-Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod-cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity, and hypogonadism. Many minor features that are related with Bardet-Biedl syndrome might aid in diagnosis and are crucial in clinical management. Bardet-Biedl syndrome is diagnosed on the basis of clinical signs and symptoms, which can be confirmed by genetic testing. Here we present four cases of Bardet-Biedl syndrome. To our knowledge, these are the first cases of Bardet-Biedl syndrome reported from Sudan.
CASE PRESENTATION
Here, we report four Sudanese patients who presented with a variety of clinical manifestations of Bardet-Biedl syndrome (two males, 50 and 16 years old; two females, 38 and 18 years old). The first two patients presented with features of chronic kidney disease. The third patient had recently been diagnosed with type 1 diabetes and diabetic ketoacidosis. The fourth patient showed signs of retinal dystrophy early on. Case 1: a 38-year-old female presented with vomiting and irritability; the patient was diagnosed with Bardet-Biedl syndrome as she fulfilled six items of the primary features (obesity, retinitis pigmentosa, post-axial polydactyly, renal abnormalities, learning disabilities, and genitourinary malformations), as well as one secondary feature (cardiovascular involvement, that is, left ventricular hypertrophy). Case 2: a 50-year-old male presented with fatigability; the patient was diagnosed with Bardet-Biedl syndrome as he fulfilled four items of the primary features (obesity, retinitis pigmentosa, post-axial polydactyly, and renal abnormalities) in addition to two secondary features (diabetes mellitus and cardiovascular involvement, that is, left ventricular hypertrophy). Case 3: an 18-year-old female presented with polyuria, polydipsia, weight loss, and epigastric pain for 2 days; the patient was diagnosed with Bardet-Biedl syndrome because he had four major features (retinal dystrophy, post-axial polydactyly, obesity, and learning disabilities) in addition to three secondary features (developmental delay, diabetes mellitus, and strabismus). Case 4: a 16-year-old male presented with a blurring of vision; the patient was diagnosed with Bardet-Biedl syndrome as he exhibited four major features (retinal dystrophy, post-axial polydactyly, obesity, and learning disabilities) plus two secondary features (developmental delay and cataract).
CONCLUSION
The scarcity of Bardet-Biedl syndrome necessitates a high index of suspicion to diagnose this syndrome. Increased awareness among physicians is required for the early diagnosis and treatment of Bardet-Biedl syndrome and to avoid complications and mortality.
Topics: Adolescent; Adult; Bardet-Biedl Syndrome; Female; Fingers; Humans; Hypertrophy, Left Ventricular; Kidney; Learning Disabilities; Male; Middle Aged; Obesity; Polydactyly; Retinitis Pigmentosa; Toes; Urogenital Abnormalities
PubMed: 35484558
DOI: 10.1186/s13256-022-03396-6 -
Current Opinion in Pediatrics Feb 2020The purpose of this review is to describe various forms of hand polydactyly and their different treatment approaches. Hand polydactyly is commonly classified as ulnar... (Review)
Review
PURPOSE OF REVIEW
The purpose of this review is to describe various forms of hand polydactyly and their different treatment approaches. Hand polydactyly is commonly classified as ulnar (small finger) or radial (thumb). Polydactyly can be sporadic, genetic, and/or associated with syndromic conditions.
RECENT FINDINGS
Both ulnar and radial polydactyly can be surgically treated to optimize hand aesthetics and function. Timing of surgery is based on multiple factors, most notably including safety of anesthesia and socialization of the affected child. The pediatrician should be aware of potential associated conditions, such as chondroectodermal dysplasia or Ellis-van Creveld syndrome for ulnar polydactyly.
SUMMARY
Polydactyly is a common congenital hand difference and can be broadly be classified by radial or ulnar involvement. Polydactyly warrants hand surgical referral, as surgical treatment is often indicated. Pediatricians should be aware of treatment options, as well as of commonly associated anomalies and syndromes.
Topics: Child; Fingers; Hand Deformities, Congenital; Humans; Polydactyly; Thumb
PubMed: 31851054
DOI: 10.1097/MOP.0000000000000871 -
The Journal of Hand Surgery, European... Dec 2023Ulnar dimelia is a very rare unilateral congenital upper limb anomaly (CULA) affecting the whole extremity. Treatment remains difficult because of the complexity and... (Review)
Review
Ulnar dimelia is a very rare unilateral congenital upper limb anomaly (CULA) affecting the whole extremity. Treatment remains difficult because of the complexity and multi-level involvement. Twenty-four cases with duplicated ulna, absent radius and polydactyly from seven European centres were reviewed according to a structured list of parameters. At first consultation, median age 8 months (1-178), the shoulder movement was good in 17 patients or poor in six, and the median passive elbow range of motion was 20° (0°-90°). The resting wrist position was flexed in 22/24 patients. Following stretching and splinting, elbow surgery included resection of the lateral proximal ulna in 11 patients and muscle transfers in six to improve passive movement and increase active elbow motion, respectively. Tendon transfers were performed in eight wrists and a pollicization or pseudo-pollicization in 23 patients. Overall, patients demonstrate acceptable function postoperatively. Guidelines for treatment of this severe CULA are presented. IV.
Topics: Humans; Hand Deformities, Congenital; Ulna; Polydactyly; Wrist Joint; Upper Extremity; Radius
PubMed: 37684016
DOI: 10.1177/17531934231196418 -
Plastic Surgical Nursing : Official... 2016Congenital hand differences are frequently encountered by pediatric plastic surgeons. These anomalies may cause significant emotional and functional challenges for...
Congenital hand differences are frequently encountered by pediatric plastic surgeons. These anomalies may cause significant emotional and functional challenges for children. Pediatric plastic surgery nurses should have a basic understanding of common congenital hand differences and related treatment options to facilitate patient education and postoperative care. This article discusses clinical findings and management of 4 of the most common hand anomalies: syndactyly, polydactyly, thumb hypoplasia, and cleft hand. The goals of surgical treatment are to maximize hand function and aesthetics with minimal adverse outcomes.
Topics: Child, Preschool; Congenital Abnormalities; Hand; Humans; Infant; Pediatrics; Polydactyly; Plastic Surgery Procedures; Syndactyly
PubMed: 27254240
DOI: 10.1097/PSN.0000000000000133 -
Hand (New York, N.Y.) Nov 2023Type B ulnar polydactyly is one of the most commonly encountered congenital hand differences and can be treated with ligation or excision. The purpose of this study was... (Review)
Review
BACKGROUND
Type B ulnar polydactyly is one of the most commonly encountered congenital hand differences and can be treated with ligation or excision. The purpose of this study was to determine what factors families consider in selecting treatment for their child with type B ulnar polydactyly.
METHODS
We reviewed treatment outcomes and administered a survey by telephone to parents of children with type B ulnar polydactyly treated at a pediatric hospital between 2015 and 2020. We assessed satisfaction, reasons for choosing treatment, and post-management complications.
RESULTS
The families of 70 of the 156 consecutive treated patients were successfully contacted and agreed to participate (45% response rate). The mean follow-up was 27 months. Twenty-eight chose in-office suture ligation and 42 chose excision. Rapid treatment was prioritized by those who opted for in-office ligation ( = .044). The complication rate for suture ligation was significantly higher than excision ( < .0001), with the most common complication being a residual remnant (nubbin or neuroma stump) (64%). Respondents with residual remnant reported significantly less satisfaction with the appearance of their child's hand ( < .001) and with treatment outcomes ( = .028) compared to those without residual remnants.
CONCLUSIONS
Factors considered by parents in choosing type of treatment for type B ulnar polydactyly vary and may be significantly influenced by the surgeon. Although the majority of parents remain extremely satisfied with their child's outcome regardless of management type, time to treatment plays a determinative role in parents opting for ligation rather than excision in the operating room.
Topics: Child; Humans; Fingers; Polydactyly; Hand; Treatment Outcome; Parents
PubMed: 35658690
DOI: 10.1177/15589447221096707