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BMJ Case Reports Apr 2022
Topics: Humans; Maxilla; Maxillary Sinus; Micrognathism; Sjogren's Syndrome
PubMed: 35393283
DOI: 10.1136/bcr-2022-249659 -
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 -
European Journal of Medical Genetics Nov 2022Coffin-Siris syndrome (CSS) is a rare neurodevelopmental and multisystemic disorder with wide genetic heterogeneity and phenotypic variability caused by pathogenic... (Review)
Review
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental and multisystemic disorder with wide genetic heterogeneity and phenotypic variability caused by pathogenic variants in the BAF complex with 341 cases enrolled in the CSS/BAF-related disorders registry by 2021. Pathogenic variants of ARID1A account for 7-8% of cases with CSS phenotype. Malignancy has been previously reported in six individuals with CSS associated with BAF mutations. Two of these malignancies including one acute lymphoid leukemia and one hepatoblastoma were reported in ARID1A-associated CSS (ARID1A-CSS). Alterations in ARID1A are among the most common molecular aberrations in human cancer. Somatic deletion of 1p and specifically of 1p36.11 containing ARID1A is frequently seen in hepatoblastoma and has been associated with high-risk features. Here we report a child with CSS Phenotype and a novel de novo variant of ARID1A with hepatoblastoma. Because hepatoblastoma has an incidence of 1 per million children, the presence of hepatoblastoma in 2 of 30 known cases of ARID1A-CSS is significant. ARID1A-CSS should be included among the cancer predisposition syndromes associated with an increased risk of hepatoblastoma and tumour surveillance considered for these patients. The role of ARID1A in the pathogenesis and outcome of hepatoblastoma deserves further investigation.
Topics: Abnormalities, Multiple; Child; DNA-Binding Proteins; Face; Hand Deformities, Congenital; Hepatoblastoma; Humans; Intellectual Disability; Liver Neoplasms; Micrognathism; Neck; Transcription Factors
PubMed: 36049608
DOI: 10.1016/j.ejmg.2022.104600 -
BMJ Case Reports Sep 2016
Topics: Angioplasty, Balloon, Coronary; Arteries; DNA Mutational Analysis; Failure to Thrive; Female; Humans; Infant; Infant, Newborn; Joint Instability; Micrognathism; Skin Diseases, Genetic; Stents; Treatment Outcome; Vascular Malformations
PubMed: 27651409
DOI: 10.1136/bcr-2016-217029 -
Clinical Genetics Sep 2023Pigmentary abnormalities in Coffin-Siris Syndrome should be considered as part of the wide phenotypical spectrum of this patients.
Pigmentary abnormalities in Coffin-Siris Syndrome should be considered as part of the wide phenotypical spectrum of this patients.
Topics: Humans; Syndrome; Abnormalities, Multiple; Intellectual Disability; Micrognathism; Hand Deformities, Congenital; Neck; Pigmentation
PubMed: 37166055
DOI: 10.1111/cge.14356 -
The Cleft Palate-craniofacial Journal :... Mar 2016Objective To gather data from relevant experimental and observational studies to determine the relationship between micrognathia and cleft palate. The goal is to raise... (Review)
Review
Objective To gather data from relevant experimental and observational studies to determine the relationship between micrognathia and cleft palate. The goal is to raise awareness and motivate clinicians to consider the cause and effect relationship when confronted with patients with cleft palate, even if there is no clearly noticeable mandibular abnormality. Design Several electronic databases were systematically examined to find articles for this review, using search terms including "cleft palate," "micrognathia," "tongue," and "airway obstruction." PubMed was the source of all the articles chosen to be included. Exclusion criteria included case reports, articles focused on treatment options, and articles only tangentially related to cleft palate and/or micrognathia. Results A total of 930 articles were screened for relevance, and 82 articles were chosen for further analysis. Evidence gathered in this review includes a variety of etiological factors that are causative or associated with both micrognathia and cleft palate. Observational studies relating the two abnormalities are also included. Much of the included literature recognizes a cause-and-effect relationship between micrognathia and cleft palate. Conclusion On the basis of the published data, we suggest that micrognathia does induce cleft palate in humans and animals. With knowledge of this causative relationship, clinicians should consider the importance of gathering cephalometric data on the mandibles and tongues of patients presenting with isolated cleft palate to determine whether they have micrognathia as well. With more data, patterns may emerge that could give insight into the complex etiology of nonsyndromic cleft palate.
Topics: Animals; Cephalometry; Cleft Palate; Humans; Micrognathism
PubMed: 25658963
DOI: 10.1597/14-238 -
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 -
Journal of Stomatology, Oral and... Nov 2018Pierre Robin syndrome (PRS) is characterized of a triad of clinical signs: micrognathia, glossoptosis and obstruction of the upper airways frequently associated with... (Review)
Review
Pierre Robin syndrome (PRS) is characterized of a triad of clinical signs: micrognathia, glossoptosis and obstruction of the upper airways frequently associated with palatal cleft. It is a heterogenic pathological entity and it can be found as isolated disease (nsPRS) or in association with other syndromes (sPRS), with more pronounced symptoms and systemic involvement. This review aims to summarize the principal features of PRS, analysing the different aspects of the disease. Epidemiological data highlight incidence, severity and mortality of PRS; pathophysiological mechanism reports the etiology and pathogenesis of the disease distinguishing between isolated and syndromic form. Because of the clinical importance of PRS, it's fundamental to describe the features of the Robin sequence to clearly define its primary and secondary clinical signs useful to diagnosis. A complete evaluation of the syndrome allows choosing the most appropriate therapeutic treatment, opting for conservative or surgical management, in order to improve the quality of life of the patient.
Topics: Airway Obstruction; Glossoptosis; Humans; Micrognathism; Pierre Robin Syndrome; Quality of Life
PubMed: 29777780
DOI: 10.1016/j.jormas.2018.05.002 -
The New England Journal of Medicine Mar 2022
Topics: Humans; Intellectual Disability; Micrognathism; Ribs
PubMed: 35353973
DOI: 10.1056/NEJMc2117812 -
American Journal of Orthodontics and... May 2023Mandibular micrognathism (MM) is an underdeveloped mandible resulting from complex interactions between genetic and environmental factors. Prior research focused mainly...
INTRODUCTION
Mandibular micrognathism (MM) is an underdeveloped mandible resulting from complex interactions between genetic and environmental factors. Prior research focused mainly on the genetic determinants of mandibular retrognathism, not necessarily reflecting micrognathism, thus supporting the need to study MM. This study aimed to explore the inheritance pattern and identify the candidate genes involved in the development and familial transmission of MM.
METHODS
Diagnosing probands with MM was based on clinical and lateral cephalometric data. The pedigrees were drawn for 11 identified families, 5 of whom accepted to undergo detailed data and biospecimen collection. These families included 15 MM and 13 non-MM subjects over 2-3 generations. The procedure involved the withdrawal of 5 mL of blood. Genomic DNA was isolated from blood cells to investigate protein-coding regions via whole exome sequencing. Standardized filtering steps were employed, and candidate genes were identified.
RESULTS
Most of the pedigrees suggested a Mendelian inheritance pattern and segregated in an autosomal-dominant manner. One of the families, which also underwent biospecimen, displayed an X-linked inheritance pattern of the trait. Genetic screening disclosed 8 potentially novel genes (GLUD2, ADGRG4, ARSH, TGIF1, FGFR3, ZNF181, INTS7, and WNT6). None of the recognized exonic regions were previously reported.
CONCLUSIONS
Eight novel genes were identified in association with MM in the largest number of families reported to date. The genes were X-linked in 1 family, a finding previously not observed in mandibular genetics.
Topics: Humans; Micrognathism; Malocclusion; Phenotype; Pedigree; Mandible; Malocclusion, Angle Class II; Repressor Proteins; Homeodomain Proteins
PubMed: 36581475
DOI: 10.1016/j.ajodo.2022.04.020