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Singapore Medical Journal Dec 2010Congenital hand deformities are common but most of these conditions are minor. Polydactyly and syndactyly are the commonest congenital hand conditions for which... (Review)
Review
Congenital hand deformities are common but most of these conditions are minor. Polydactyly and syndactyly are the commonest congenital hand conditions for which treatment is sought. The presence of congenital hand deformities has a significant psychological impact on both the parents and child, and in severe cases, can significantly affect limb function. This article reviews the more common hand conditions so that non-specialist physicians can diagnose them and understand their management principles.
Topics: Fingers; Hand Deformities, Congenital; Humans; Polydactyly; Syndactyly; Thumb
PubMed: 21221503
DOI: No ID Found -
Cureus Apr 2024Polydactyly-myopia syndrome is a rare genetic condition characterized by the co-occurrence of polydactyly and myopia. Herein, we present the case of a 28-year-old Muslim...
Polydactyly-myopia syndrome is a rare genetic condition characterized by the co-occurrence of polydactyly and myopia. Herein, we present the case of a 28-year-old Muslim male, born of consanguineous parents, who presented with complaints of diminished vision since childhood. Ophthalmologic examination revealed severe myopia with characteristic fundus changes indicative of high myopia. Additionally, the patient exhibited polydactyly in all limbs, with a positive family history of both polydactyly and myopia. This case underscores the importance of recognizing and managing rare syndromes to provide appropriate genetic counseling and clinical care. Further research is warranted to elucidate the underlying genetic mechanisms and optimize therapeutic strategies for polydactyly-myopia syndrome. Awareness of this syndrome among healthcare providers is essential to facilitate early diagnosis and intervention for affected individuals and their families.
PubMed: 38745815
DOI: 10.7759/cureus.58235 -
European Journal of Human Genetics :... Apr 2023Deleterious variants of DYNC2H1 gene are associated with a wide spectrum of skeletal ciliopathies (SC). We used targeted parallel sequencing to analyze 25 molecularly...
Deleterious variants of DYNC2H1 gene are associated with a wide spectrum of skeletal ciliopathies (SC). We used targeted parallel sequencing to analyze 25 molecularly unsolved families with different SCs. Deleterious DYNC2H1 variants were found in six sporadic patients and two monozygotic (MZ) twins. Clinical diagnoses included short rib-polydactyly type 3 in two cases, and asphyxiating thoracic dystrophy (ATD) in one case. Remarkably, clinical diagnosis fitted with EvC, mixed ATD/EvC and short rib-polydactyly/EvC phenotypes in three sporadic patients and the MZ twins. EvC/EvC-like features always occurred in compound heterozygotes sharing a previously unreported splice site change (c.6140-5A>G) or compound heterozygotes for two missense variants. These results expand the DYNC2H1 mutational repertoire and its clinical spectrum, suggesting that EvC may be occasionally caused by DYNC2H1 variants presumably acting as hypomorphic alleles.
Topics: Humans; Ciliopathies; Cytoplasmic Dyneins; Ellis-Van Creveld Syndrome; Mutation; Polydactyly
PubMed: 36599940
DOI: 10.1038/s41431-022-01276-7 -
Seminars in Plastic Surgery Nov 2016Preaxial polydactyly is a common, often sporadic, congenital anomaly that must be addressed surgically early in life. Ideally, the surgeon seeks to accomplish three... (Review)
Review
Preaxial polydactyly is a common, often sporadic, congenital anomaly that must be addressed surgically early in life. Ideally, the surgeon seeks to accomplish three goals: construction of a thumb that is adequate in size, preservation of pinch function, and reconstruction of all components in one procedure. Although each case is unique, several classification systems attempt to describe the various types. In this article, the authors discuss the various classification systems, procedures, and outcomes after surgery for pediatric thumb duplication.
PubMed: 27895541
DOI: 10.1055/s-0036-1593736 -
Genes Aug 2021Bardet-Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement and autosomal recessive inheritance. The clinical picture is extremely... (Review)
Review
Bardet-Biedl Syndrome is a rare non-motile primary ciliopathy with multisystem involvement and autosomal recessive inheritance. The clinical picture is extremely polymorphic. The main clinical features are retinal cone-rod dystrophy, central obesity, postaxial polydactyly, cognitive impairment, hypogonadism and genitourinary abnormalities, and kidney disease. It is caused by various types of mutations, mainly in genes encoding BBSome proteins, chaperonins, and IFT complex. Variable expressivity and pleiotropy are correlated with the existence of multiple genes and variants modifiers. This review is focused on the phenomena of heterogeneity (locus, allelic, mutational, and clinical) in Bardet-Biedl Syndrome, its mechanisms, and importance in early diagnosis and proper management.
Topics: Bardet-Biedl Syndrome; Fingers; Genetic Association Studies; Genetic Pleiotropy; Humans; Microtubule-Associated Proteins; Mutation; Polydactyly; Protein Interaction Maps; Toes
PubMed: 34573333
DOI: 10.3390/genes12091353 -
Annals of Translational Medicine Aug 2021Few studies have investigated families in which multiple individuals over three or more generations are affected by radial polydactyly and syndactyly. This report...
BACKGROUND
Few studies have investigated families in which multiple individuals over three or more generations are affected by radial polydactyly and syndactyly. This report describes an extremely rare family in which nine individuals across six generations were affected by complex radial polydactyly.
METHODS
We investigated a six-generation pedigree with radial polydactyly including triplication, triphalangism, hypoplasia, and symphalangism. There was a total of 34 individuals (including their spouses) in the family and 11 individuals had polydactyly. The average age of the patients ranged from 7 months to 96 years. The characteristic feature of the malformation in these patients was described. Two patients underwent surgical resection for radial supernumerary thumbs. The Bilhout-Cloquet technique and On-top-plasty technique were used to reconstruct the nail and the joints.
RESULTS
The patients in this family presented with thumb duplication and triphalangism in both hands, including a variety of deformities, such as triplication, triphalangism, hypoplasia, and symphalangism. Syndactyly and ulnar polydactyly were also frequently observed. Two patients who underwent surgical treatment showed good hand and thumb function at the 8- and 2-year post-operative follow-up, respectively.
CONCLUSIONS
The present study reported various mixed phenotypes including triplication, triphalangism, hypoplasia, and symphalangism within the same family which may represent a rare type of polydactyly. Surgical resection of extra digits to achieve mobility of the thumb is the main treatment option for radial polydactyly. Given the ulnar thumb is better developed, the radial thumb is typically resected in patients with radial polydactyly. These reconstructive principles are fit for this Chinese family as well.
PubMed: 34532433
DOI: 10.21037/atm-21-2773 -
Case Reports in Orthopedics 2022A 70-year-old woman born and raised in India presented with Wassel type IV preaxial polydactyly of the right thumb and difficulty performing daily activities. She...
A 70-year-old woman born and raised in India presented with Wassel type IV preaxial polydactyly of the right thumb and difficulty performing daily activities. She elected for surgical reconstruction after postponing the procedure for many years due to cultural norms. Her postoperative course was unremarkable. At her 3-month follow-up, she was diagnosed with carpal tunnel syndrome and underwent open carpal tunnel release. Preaxial polydactyly repair is unusual in patients older than 25 years. Though the duplication is considered lucky in South Asia, indications for this case were arthritic pain, cosmesis, and function. This case report details a unique indication for polydactyly reconstruction, arthritic pain, which may benefit hand surgeons when discussing the literature on adult polydactyly with their patients.
PubMed: 36092282
DOI: 10.1155/2022/7031401 -
Scientific Reports Mar 2019Treating cartilage injuries and degenerations represents an open surgical challenge. The recent advances in cell therapies have raised the need for a potent...
Treating cartilage injuries and degenerations represents an open surgical challenge. The recent advances in cell therapies have raised the need for a potent off-the-shelf cell source. Intra-articular injections of TGF-β transduced polydactyly chondrocytes have been proposed as a chronic osteoarthritis treatment but despite promising results, the use of gene therapy still raises safety concerns. In this study, we characterized infant, polydactyly chondrocytes during in vitro expansion and chondrogenic re-differentiation. Polydactyly chondrocytes have a steady proliferative rate and re-differentiate in 3D pellet culture after up to five passages. Additionally, we demonstrated that polydactyly chondrocytes produce cartilage-like matrix in a hyaluronan-based hydrogel, namely transglutaminase cross-linked hyaluronic acid (HA-TG). We utilized the versatility of TG cross-linking to augment the hydrogels with heparin moieties. The heparin chains allowed us to load the scaffolds with TGF-β1, which induced cartilage-like matrix deposition both in vitro and in vivo in a subcutaneous mouse model. This strategy introduces the possibility to use infant, polydactyly chondrocytes for the clinical treatment of joint diseases.
Topics: Adult; Animals; Cartilage, Articular; Cattle; Cells, Cultured; Chondrocytes; Collagen; Female; Humans; Hyaluronic Acid; Hydrogels; Immunohistochemistry; Immunophenotyping; Infant; Kinetics; Male; Mice, Nude; Polymerase Chain Reaction; Tissue Engineering; Transforming Growth Factor beta1; Young Adult
PubMed: 30862915
DOI: 10.1038/s41598-019-40575-w -
Frontiers in Genetics 2018Polydactyly, also known as or is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part...
Polydactyly, also known as or is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome (syndromic polydactyly) or may occur as a separate event (non-syndromic polydactyly). Broadly, the non-syndromic polydactyly has been classified into three types, i.e.; preaxial polydactyly (radial), central polydactyly (axial), and postaxial polydactyly (ulnar). Mostly inherited as an autosomal dominant entity with variable penetrance and caused by defects that occur in the anterior-posterior patterning of limb development. In humans, to-date at least 10 loci and six genes causing non-syndromic polydactyly have been identified, including the , , , , , and the . In the present review, clinical, genetic and molecular characterization of the polydactyly types has been presented including the recent genes and loci identified for non-syndromic polydactyly. This review provides an overview of the complex genetic mechanism underlie polydactyly and might help in genetic counseling and quick molecular diagnosis.
PubMed: 30459804
DOI: 10.3389/fgene.2018.00447 -
Joint Diseases and Related Surgery 2022This study aims to compare the usefulness of two systems in classifying thumb duplication cases and give some examples of the cases we believe that are unclassifiable.
OBJECTIVES
This study aims to compare the usefulness of two systems in classifying thumb duplication cases and give some examples of the cases we believe that are unclassifiable.
PATIENTS AND METHODS
Between January 2011 and January 2018, a total of 50 patients (29 males, 21 females; median age: 46.4±68.3 months; range, 1 to 318 months) with thumb duplications as assessed according to the Wassel and Rotterdam classification systems were included.
RESULTS
Duplication was present in the right hand in 28, in the left hand in 21, and in both hands in one patient. According to the Wassel classification system, 45 patients could be allocated in any of the types; however, five patients could not be classified. According to the Rotterdam classification, 47 cases fell into one of the classifications; however, three cases could not be classified.
CONCLUSION
Despite efforts to find the best classification system for thumb duplications, the proposed systems may not fully cover the presented radial polydactyly cases, and additions to the system are required.
Topics: Child; Child, Preschool; Female; Humans; Male; Polydactyly; Thumb
PubMed: 35361090
DOI: 10.52312/jdrs.2022.482