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Genes Apr 2022A comprehensive summary of recent knowledge in syndactyly (SD) is important for understanding the genetic etiology of SD and disease management. Thus, this review... (Review)
Review
A comprehensive summary of recent knowledge in syndactyly (SD) is important for understanding the genetic etiology of SD and disease management. Thus, this review article provides background information on SD, as well as insights into phenotypic and genetic heterogeneity, newly identified gene mutations in various SD types, the role of in limb deformities, and recently introduced modern surgical techniques for SD. This article also proposes a procedure for genetic analysis to obtain a clearer genotype-phenotype correlation for SD in the future. We briefly describe the classification of non-syndromic SD based on variable phenotypes to explain different phenotypic features and mutations in the various genes responsible for the pathogenesis of different types of SD. We describe how different types of mutation in cause various types of SD, and how a mutation in could affect its interaction with other genes, which may be one of the reasons behind the differential phenotypes and incomplete penetrance. Furthermore, we also discuss some recently introduced modern surgical techniques, such as free skin grafting, improved flap techniques, and dermal fat grafting in combination with the Z-method incision, which have been successfully practiced clinically with no post-operative complications.
Topics: Genes, Homeobox; Homeodomain Proteins; Humans; Pedigree; Syndactyly; Transcription Factors
PubMed: 35627156
DOI: 10.3390/genes13050771 -
Anaesthesia Jul 1990
Topics: Atropine; Goldenhar Syndrome; Heart Rate; Humans; Infant; Intubation, Intratracheal; Mandibulofacial Dysostosis
PubMed: 2386290
DOI: 10.1111/j.1365-2044.1990.tb14846.x -
British Medical Journal (Clinical... Mar 1985
Topics: Acrocephalosyndactylia; Child, Preschool; Craniofacial Dysostosis; Craniosynostoses; Facial Neoplasms; Humans; Orbit; Surgery, Plastic; Wounds and Injuries
PubMed: 3918719
DOI: 10.1136/bmj.290.6469.693 -
Tidsskrift For Den Norske Laegeforening... Aug 2013Syndactyly or webbed fingers is one of the most common congenital malformations of the upper extremities, but it comprises few new cases annually. The purpose of... (Review)
Review
BACKGROUND
Syndactyly or webbed fingers is one of the most common congenital malformations of the upper extremities, but it comprises few new cases annually. The purpose of treatment is to enhance hand function.
METHOD
The article is based on current text books and literature searches in PubMed as well as the authors' clinical experience within this field.
RESULTS
The purpose of surgical treatment is to separate the fingers and reconstruct a webspace. It is difficult to indicate exact treatment results because of large variations in the extent of the deformity. For syndactyly involving only soft tissue (simple syndactyly), a good functional result is achieved with a less than 10% risk of complications. Syndactyly where also the bones have fused (complex syndactyly) or where there is additional bone formation between two digital rays (complicated syndactyly), gives a poorer functional outcome and a higher risk of complications. Gradual stretching of the tissue using a distraction device enables separation of fingers one was previously reluctant to separate.
INTERPRETATION
It should be possible to expect safe separation with a good and independent function of the fingers with surgical treatment. The parents should be informed that the surgical treatment is a reconstructive procedure that may require secondary corrections.
Topics: Child, Preschool; Fingers; Humans; Infant; Range of Motion, Articular; Plastic Surgery Procedures; Recovery of Function; Surgical Flaps; Syndactyly; Treatment Outcome
PubMed: 23970273
DOI: 10.4045/tidsskr.13.0147 -
American Family Physician Jun 2004Skull deformity in infants continues to be a diagnostic and therapeutic challenge. Deformational plagiocephaly is a common and somewhat benign cause of skull deformity... (Review)
Review
Skull deformity in infants continues to be a diagnostic and therapeutic challenge. Deformational plagiocephaly is a common and somewhat benign cause of skull deformity in infants that must be distinguished from the more serious craniosynostosis, which occurs alone or as a syndrome. Examining an infant's head from above can help the physician distinguish true lambdoid synostosis from deformational plagiocephaly. In infants with lambdoid synostosis, the posterior bossing is in the parietal area contralateral to the flat part of the head. Deformational plagiocephaly causes frontal bossing ipsilateral to the flat part of the head. In infants with lambdoid synostosis, the ear is displaced posteriorly toward the fused suture. In infants with deformational plagiocephaly, the ear is displaced anteriorly. Isolated sagittal synostosis is the most common type of craniosynostosis. Of the more than 150 craniosynostosis syndromes, Crouzon's disease and Apert's syndrome account for the majority of cases. The diagnosis of craniosynostosis relies on physical examination, plain radiography, and computed tomography. Untreated progressive craniosynostosis leads to inhibition of brain growth, and an increase in intracranial and intraorbital pressure. Infants should be evaluated as soon as they are diagnosed.
Topics: Cranial Sutures; Craniosynostoses; Diagnosis, Differential; Humans; Infant; Infant, Newborn; Radiography; Skull; Syndrome
PubMed: 15222651
DOI: No ID Found -
Genes Dec 2023Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb... (Review)
Review
Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb deformities, mandibular hypoplasia, hypoplasia or absence of thumbs, microretrognathia, and ankylosis of the temporomandibular joint. The prevalence is very rare and the literature describes only about a hundred cases of Nager syndrome. There is evidence of autosomal dominant and autosomal recessive inheritance for Nager syndrome, suggesting genetic heterogeneity. The majority of the described causes of Nager syndrome include pathogenic variants in the gene, which encodes a component of the spliceosome; therefore, the syndrome belongs to the spliceosomopathy group of diseases. The diagnosis is made on the basis of physical and radiological examination and detection of mutations in the gene. Due to the diversity of defects associated with Nager syndrome, patients require multidisciplinary, complex, and long-lasting treatment. Usually, it starts from birth until the age of twenty years. The surgical procedures vary over a patient's lifetime and are related to the needed function. First, breathing and feeding must be facilitated; then, oral and facial clefts should be addressed, followed by correcting eyelid deformities and cheekbone reconstruction. In later age, a surgery of the nose and external ear is performed. Speech and hearing disorders require specialized logopedic treatment. A defect of the thumb is treated by transplanting a tendon and muscle or transferring the position of the index finger. In addition to surgery, in order to maximize a patient's benefit and to reduce functional insufficiency, complementary treatments such as rehabilitation and physiotherapy are recommended. In our study, we describe eight patients of different ages with various cases of Nager syndrome. The aim of our work was to present the actual genetic knowledge on this disease and its treatment procedures.
Topics: Child; Humans; Young Adult; Adult; Mandibulofacial Dysostosis; Cleft Palate; Micrognathism; Syndrome; RNA Splicing Factors
PubMed: 38254920
DOI: 10.3390/genes15010029 -
Journal of Medical Genetics Oct 1995
Review
Topics: Humans; Mandibulofacial Dysostosis; Syndrome
PubMed: 8558560
DOI: 10.1136/jmg.32.10.806 -
Lin Chuang Er Bi Yan Hou Tou Jing Wai... Apr 2021Children with microtia are often associated with maxillofacial dysostosis, such as Treacher Collins syndrome, Goldenhar syndrome, and Nager syndrome, and they are prone... (Review)
Review
Children with microtia are often associated with maxillofacial dysostosis, such as Treacher Collins syndrome, Goldenhar syndrome, and Nager syndrome, and they are prone to suffer from obstructive sleep apnea(OSA). Obstruction widely occurred in the upper airway is the main mechanism of OSA in these children, and dysplasia of the pharynx and neurodevelopmental abnormalities may also participate. Early diagnosis requires symptom screening and polysomnography. Imaging techniques and endoscopy can be adopted to fully assess the upper airway status to guide further treatment. According to the child's condition and the main obstruction site, treatment methods include maxillofacial deformity correction, continuous positive pressure ventilation and tracheotomy. OSA in microtia children with maxillofacial dysostosis needs to be identified and treated in time to reduce the adverse effects on the growth and development of children.
Topics: Child; Congenital Microtia; Craniofacial Dysostosis; Eye Abnormalities; Humans; Maxillofacial Abnormalities; Sleep Apnea, Obstructive; Speech Disorders
PubMed: 33794641
DOI: 10.13201/j.issn.2096-7993.2021.04.020 -
Asian Journal of Surgery Dec 2021
Topics: Craniofacial Dysostosis; Humans; Strabismus
PubMed: 34588136
DOI: 10.1016/j.asjsur.2021.08.051 -
Discovery Medicine 2021In eukaryotes, spliceosomes catalyze the splicing of pre-mRNA to mature mRNA. As the core subunit of U2 spliceosome, splicing factor SF3b4 plays not only a crucial role... (Review)
Review
In eukaryotes, spliceosomes catalyze the splicing of pre-mRNA to mature mRNA. As the core subunit of U2 spliceosome, splicing factor SF3b4 plays not only a crucial role in the splicing process, but also a role in transcription, translation, and cell signal transduction, and participates in the regulation of cell cycle, cell differentiation, and immune deficiency. In recent years, more and more research studies on SF3b4-related diseases, such as Nager syndrome and cancer, have been conducted. It has been found that SF3b4 mutations led to abnormal cell growth and were involved in the development and occurrence of these diseases. In this review, the diseases, mainly congenital diseases and tumors, in which SF3B4 is involved and the pathogenesis of them were summarized, aiming to provide a better understanding of the roles of SF3B4 in the prevention, diagnosis, and treatment of diseases in the future.
Topics: Humans; Mandibulofacial Dysostosis; Mutation; Neoplasms; RNA Splicing; RNA Splicing Factors
PubMed: 35220998
DOI: No ID Found