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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 -
Seminars in Plastic Surgery Nov 2023Upper extremity congenital anomalies in the newborn are second only to congenital heart anomalies. Some of the more commonly encountered upper extremity anomalies are... (Review)
Review
Upper extremity congenital anomalies in the newborn are second only to congenital heart anomalies. Some of the more commonly encountered upper extremity anomalies are trigger thumb, thumb hypoplasia, polydactyly, syndactyly, and amniotic band syndrome. While some conditions occur in isolation, others are known to commonly occur in association with syndromes. Familiarity with these conditions is important not only to provide adequate evaluation and workup of these patients but also to deliver appropriate surgical intervention and prepare parents with appropriate expectations. In this article, we outline the etiology, classification, surgical management, and outcomes of these five commonly encountered upper extremity congenital anomalies.
PubMed: 38098681
DOI: 10.1055/s-0043-1777096 -
World Journal of Orthopedics Jan 2023Polydactyly is a malformation during the development of the human limb, which is characterized by the presence of more than the normal number of fingers or toes. It is... (Review)
Review
Polydactyly is a malformation during the development of the human limb, which is characterized by the presence of more than the normal number of fingers or toes. It is considered to be one of the most common inherited hand disorders. It can be divided into two major groups: Non-syndromic polydactyly or syndromic polydactyly. According to the anatomical location of the duplicated digits, polydactyly can be generally subdivided into pre-, post-axial, and mesoaxial forms. Non-syndromic polydactyly is often inherited with an autosomal dominant trait and defects during the procedure of anterior-posterior patterning of limb development are incriminated for the final phenotype of the malformation. There are several forms of polydactyly, including hand and foot extra digit manifestations. The deformity affects upper limbs with a higher frequency than the lower, and the left foot is more often involved than the right. The treatment is always surgical. Since the clinical presentation is highly diverse, the treatment combines single or multiple surgical operations, depending on the type of polydactyly. The research attention that congenital limb deformities have recently attracted has resulted in broadening the list of isolated gene mutations associated with the disorders. Next generation sequencing technologies have contributed to the correlation of phenotype and genetic profile of the multiple polydactyly manifestations and have helped in early diagnosis and screening of most non-syndromic and syndromic disorders.
PubMed: 36686282
DOI: 10.5312/wjo.v14.i1.13 -
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 -
Current Reviews in Musculoskeletal... Aug 2020To provide a current review of the embryology, classification, evaluation, surgical management, and clinical outcomes related to preaxial polydactyly. (Review)
Review
PURPOSE OF REVIEW
To provide a current review of the embryology, classification, evaluation, surgical management, and clinical outcomes related to preaxial polydactyly.
RECENT FINDINGS
Recent studies include a proposed embryologic link between preaxial polydactyly and other congenital abnormalities, an evaluation of long-term postsurgical outcomes, and an examination of important predictors for postsurgical outcomes. Preaxial polydactyly, while relatively uncommon, is a complex congenital hand abnormality that requires careful preoperative classification and proper surgical intervention timing to yield optimal outcomes.
PubMed: 32472371
DOI: 10.1007/s12178-020-09644-w -
The Journal of the American Academy of... May 2021Pediatric foot polydactyly presents in a wide variety of deformities from single extra digits attached only by a narrow soft-tissue connection to complex central foot... (Review)
Review
Pediatric foot polydactyly presents in a wide variety of deformities from single extra digits attached only by a narrow soft-tissue connection to complex central foot duplications with tarsal bone duplication. The goal of surgical reconstruction is a stable, mobile, pain-free foot with five cosmetically appealing toes that allows for normal footwear and painless ambulation. This review covers the incidence, genetics and embryology, classification, presentation and natural history, physical examination, radiographic assessment, and surgical intervention for all types of foot polydactyly.
Topics: Child; Foot; Foot Deformities, Congenital; Humans; Polydactyly; Toes; Walking
PubMed: 33443388
DOI: 10.5435/JAAOS-D-20-00983 -
Internal Medicine (Tokyo, Japan) May 2021
Topics: Abnormalities, Multiple; Heart Defects, Congenital; Heart Septal Defects, Atrial; Humans; Lower Extremity Deformities, Congenital; Upper Extremity Deformities, Congenital
PubMed: 33281169
DOI: 10.2169/internalmedicine.6390-20 -
Medicine Dec 2022This study collects what is known about the inheritance underpinnings of syndromic and non-syndromic polydactylies and highlights dactyly presentations with unknown... (Review)
Review
OBJECTIVE
This study collects what is known about the inheritance underpinnings of syndromic and non-syndromic polydactylies and highlights dactyly presentations with unknown genetic roots. This review summarizes the current information and genetics-enhanced understanding of polydactyly.
BACKGROUND
There is a frequency of 0.37 to 1.2 per 1000 live births for polydactyly, which is also known as hyperdactyly. It is characterized by the presence of extra fingers. Polydactyly is caused by a failure in limb development, specifically the patterning of the developing limb bud. The phenotypic and genetic variability of polydactyly makes its etiology difficult to understand. Pre-axial polydactyly, central polydactyly (axial), and postaxial polydactyly are all examples of non-syndromic polydactyly (ulnar). An autosomal dominant disorder with varying penetrance that is mostly passed down via limb development patterning abnormalities.
METHOD
A comprehensive search of MEDLINE/PubMed and other databases was followed by an evaluation of the relevant papers, with a particular focus on those published between 2000 and 2022.
RESULTS
Of 747 published article related to Polydactyly from MEDLINE/PubMed search, 43 were from the last 10 years and were the focus of this review.
CONCLUSION
Polydactyly is one of the most frequent congenital hand malformations. PAP is more common than PPD, whereas central polydactyly is very uncommon.
Topics: Humans; Polydactyly; Fingers; Toes
PubMed: 36550802
DOI: 10.1097/MD.0000000000032060 -
Japanese Journal of Radiology Mar 2020Ciliopathy encompasses a diverse group of autosomal recessive genetic disorders caused by mutations in genes coding for components of the primary cilia. Skeletal... (Review)
Review
Ciliopathy encompasses a diverse group of autosomal recessive genetic disorders caused by mutations in genes coding for components of the primary cilia. Skeletal ciliopathy forms a subset of ciliopathies characterized by distinctive skeletal changes. Common skeletal ciliopathies include Jeune asphyxiating thoracic dysplasia, Ellis-van Creveld syndrome, Sensenbrenner syndrome, and short-rib polydactyly syndromes. These disorders share common clinical and radiological features. The clinical hallmarks comprise thoracic hypoplasia with respiratory failure, body disproportion with a normal trunk length and short limbs, and severely short digits occasionally accompanied by polydactyly. Reflecting the clinical features, the radiological hallmarks consist of a narrow thorax caused by extremely short ribs, normal or only mildly affected spine, shortening of the tubular bones, and severe brachydactyly with or without polydactyly. Other radiological clues include trident ilia/pelvis and cone-shaped epiphysis. Skeletal ciliopathies are commonly associated with extraskeletal anomalies, such as progressive renal degeneration, liver disease, retinopathy, cardiac anomalies, and cerebellar abnormalities. In this article, we discuss the radiological pattern recognition approach to skeletal ciliopathies. We also describe the clinical and genetic features of skeletal ciliopathies that the radiologists should know for them to play an appropriate role in multidisciplinary care and scientific advancement of these complicated disorders.
Topics: Bone and Bones; Ciliopathies; Craniosynostoses; Dwarfism; Ectodermal Dysplasia; Ellis-Van Creveld Syndrome; Female; Humans; Image Interpretation, Computer-Assisted; Male; Osteochondrodysplasias; Radiography
PubMed: 31965514
DOI: 10.1007/s11604-020-00920-w