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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 -
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 -
Orphanet Journal of Rare Diseases Apr 2008The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to... (Review)
Review
The Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1-9/1,000,000). The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS) anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above) and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or orthopedic surgery indicated for significant limb malformations. The prognosis for typically affected patients is excellent. There may be a slight increase in the incidence of developmental delay or cognitive impairment. Patients with large deletions that include GLI3 may have a worse prognosis. The Article is a work of the United States Government. Title 17 U.S.C 5 105 provides that copyright protection is not available for any work of the United States Government in the United States. The United States hereby grants to anyone a paid-up, nonexclusive, irrevocable worldwide license to reproduce, prepare derivative works, distribute copies to the public and perform publicly and display publicly the work, and also retains the nonexclusive right to do all of the above for or on behalf of the United States.
Topics: Abnormalities, Multiple; Brain; Diagnosis, Differential; Humans; Hypertelorism; Kruppel-Like Transcription Factors; Nerve Tissue Proteins; Prenatal Diagnosis; Prognosis; Rare Diseases; Recurrence; Risk Factors; Syndactyly; Syndrome; Zinc Finger Protein Gli3
PubMed: 18435847
DOI: 10.1186/1750-1172-3-10 -
The Pan African Medical Journal 2013
Review
Topics: Acrocephalosyndactylia; Adult; Child; Female; Genes, Dominant; Humans; Male; Middle Aged; Pregnancy
PubMed: 23565313
DOI: 10.11604/pamj.2013.14.66.2178