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Medicina Oral, Patologia Oral Y Cirugia... Nov 2018Bifid mandibular condyle (BMC) constitutes an extremely rare disorder characterized by a duplication of the head of the mandibular condyle. Its prevalence ranges from...
BACKGROUND
Bifid mandibular condyle (BMC) constitutes an extremely rare disorder characterized by a duplication of the head of the mandibular condyle. Its prevalence ranges from 0.31% to 1.82% in the published literature.
OBJECTIVES
The primary objective was to describe the main etiological, clinical and radiological characteristics of patients with BMCs and the existent treatment options. The secondary objective was to simultaneously include the characteristics of two new cases of BMC.
MATERIAL AND METHODS
An electronic search in Pubmed (MEDLINE), Scopus and The Cochrane Library was carried out by two independent reviewers until April 2018. Prospective or retrospective cohort studies, case series and case reports describing clinical and/or radiological characteristics of patients with BMC were included. Registered variables were demographic, etiological factors, diagnostic exam, clinical characteristics and treatment options. The results from the articles selected were organized in a Table along with the characteristics of two new cases of BMC provided by the authors.
RESULTS
From a total of 431 articles found in the initial search, 68 articles were finally included. This systematic review included 216 patients and 270 BMC with an average age of 30.6 (SD=14.7) years and a women:men ratio of 1.4:1. Mediolateral condylar orientation was the most prevalent position (80.1%). Among cases with known etiology, 40.8% of cases had a history of traumatism, while 55.9% did not present any relevant medical background. Half of the symptomatic cases had history of trauma. The most common symptoms were hypomobility (22.7%), arthralgia (18.1%), articular noise (17.2%) and ankylosis (17.6%). Active monitoring and manufacturing an occlusal splint were the most frequent treatment options.
CONCLUSIONS
BMC may have congenital or traumatic etiology. Hypomobility and arthralgia are the most frequent symptoms and treatment options are often conservative.
Topics: Congenital Abnormalities; Female; Humans; Male; Mandibular Condyle; Middle Aged
PubMed: 30341271
DOI: 10.4317/medoral.22681 -
Journal of Medical Genetics May 1988
Topics: Congenital Abnormalities; Ethics, Medical; Female; Genetic Diseases, Inborn; Human Rights; Humans; Mass Screening; Pregnancy
PubMed: 3385737
DOI: 10.1136/jmg.25.5.289 -
American Journal of Medical Genetics.... Dec 2007
Topics: Abnormalities, Multiple; Congenital Abnormalities; Genetics, Medical; Humans; Syndrome; Terminology as Topic
PubMed: 17963259
DOI: 10.1002/ajmg.a.31972 -
JPMA. the Journal of the Pakistan... Apr 2023Coffin-Siris syndrome (CSS) is a rare congenital genetic syndrome, a multisystem disease related to congenital abnormalities, that manifests with abnormal features,...
Coffin-Siris syndrome (CSS) is a rare congenital genetic syndrome, a multisystem disease related to congenital abnormalities, that manifests with abnormal features, causes repeated infections and is associated with developmental delays. Here, we report a newborn male with CSS from Baoding in the Hebei Province of China.
Topics: Infant, Newborn; Humans; Male; Intellectual Disability; Abnormalities, Multiple; Micrognathism; Hand Deformities, Congenital; Neck
PubMed: 37052010
DOI: 10.47391/JPMA.5157 -
British Medical Journal (Clinical... Mar 1985
Topics: Congenital Abnormalities; Ear, External; Female; Hemangioma; Humans; Hypospadias; Male; Nevus, Pigmented; Surgery, Plastic
PubMed: 3919813
DOI: 10.1136/bmj.290.6471.839 -
Canadian Medical Association Journal Oct 1954
Topics: Bone Diseases; Congenital Abnormalities; Humans; Pectus Carinatum; Sternum; Thoracic Diseases
PubMed: 13199742
DOI: No ID Found -
Journal of Nuclear Medicine : Official... Apr 1971
Topics: Adult; Congenital Abnormalities; Female; Humans; Radionuclide Imaging; Thyroid Gland; Thyrotropin
PubMed: 5550098
DOI: No ID Found -
British Medical Journal Aug 1955
Topics: Congenital Abnormalities; Funnel Chest; Thorax
PubMed: 13240106
DOI: 10.1136/bmj.2.4935.362-a -
Proceedings of the Royal Society of... Mar 1955
Topics: Abnormalities, Multiple; Congenital Abnormalities; Humans; Nervous System Malformations; Sacrococcygeal Region; Sacrum; Spinal Cord Diseases; Syndrome
PubMed: 14371562
DOI: No ID Found -
BJOG : An International Journal of... Jan 2021Fetal structural anomalies have an impact on fetal mortality and morbidity. Next-generation sequencing (NGS) may be incorporated into clinical pathways for investigation... (Review)
Review
Fetal structural anomalies have an impact on fetal mortality and morbidity. Next-generation sequencing (NGS) may be incorporated into clinical pathways for investigation of paediatric morbidity but can also be used to delineate the prognosis of fetal anomalies. This paper reviews the role of NGS in the investigation of fetal malformations, the literature defining the clinical utility, the technique most commonly used and potential promise and challenges for implementation into clinical practice. Prospective case selection with informative pre-test counselling by multidisciplinary teams is imperative. Regulated laboratory sequencing, bioinformatic pathways with potential variant identification and conservative matching with the phenotype is important. TWEETABLE ABSTRACT: Prenatal exome sequencing in fetal structural anomalies yields diagnostic information in up to 20% of cases.
Topics: Congenital Abnormalities; Female; Fetal Diseases; High-Throughput Nucleotide Sequencing; Humans; Pregnancy; Ultrasonography, Prenatal
PubMed: 32975887
DOI: 10.1111/1471-0528.16533