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Journal of the World Federation of... Aug 2023Maxillary transverse deficiency can occur in various clinical dentoskeletal deformities and include unilateral or bilateral posterior crossbite, narrow, tapering, or... (Review)
Review
Maxillary transverse deficiency can occur in various clinical dentoskeletal deformities and include unilateral or bilateral posterior crossbite, narrow, tapering, or high palatal arch. The development of temporary anchorage devices led to a new generation of tooth-bone-borne expansion appliance using two or four screws to apply the mechanical forces to the bone and reduce the stress to the anchored teeth. The aim of these new devices is to reduce the adverse dentoalveolar effect and achieve more skeletal expansion than conventional tooth-borne rapid palatal expansion. This article reviews the age limitation and complication and soft tissue change of nonsurgical maxillary expansion. We discuss the approach of surgical maxillary expansion with maxillary skeletal expander device. The clinical case will show the benefit of nonsurgical and surgical tooth-bone-borne rapid palatal expansion.
Topics: Humans; Palatal Expansion Technique; Orthodontic Appliance Design; Maxilla; Palate; Malocclusion; Micrognathism
PubMed: 37344295
DOI: 10.1016/j.ejwf.2023.04.005 -
Genes Jun 2021Coffin-Siris syndrome (CSS, MIM 135900) is a multi-system intellectual disability syndrome characterized by classic dysmorphic features, developmental delays, and organ...
Coffin-Siris syndrome (CSS, MIM 135900) is a multi-system intellectual disability syndrome characterized by classic dysmorphic features, developmental delays, and organ system anomalies. Genes in the BRG1(BRM)-associated factors (BAF, Brahma associated factor) complex have been shown to be causative, including , , , , , , , , , and . In order to describe more robust genotype-phenotype correlations, we collected data from 208 individuals from the CSS/BAF complex registry with pathogenic variants in seven of these genes. Data were organized into cohorts by affected gene, comparing genotype groups across a number of binary and quantitative phenotypes. We determined that, while numerous phenotypes are seen in individuals with variants in the BAF complex, hypotonia, hypertrichosis, sparse scalp hair, and hypoplasia of the distal phalanx are still some of the most common features. It has been previously proposed that individuals with -related variants are thought to have more learning and developmental struggles, and individuals with -related variants, while they also have developmental delay, tend to have more severe organ-related complications. -related variants also have developmental differences and organ-related complications but are most associated with neurodevelopmental differences. While these generalizations still overall hold true, we have found that all individuals with BAF-related conditions are at risk of many aspects of the phenotype, and management and surveillance should be broad.
Topics: Abnormalities, Multiple; Face; Genotype; Hand Deformities, Congenital; Humans; Intellectual Disability; Micrognathism; Mutation; Neck; Phenotype; Transcription Factors
PubMed: 34205270
DOI: 10.3390/genes12060937 -
Genetics in Medicine : Official Journal... Jun 2019Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies...
PURPOSE
Pathogenic variants in ARID1B are one of the most frequent causes of intellectual disability (ID) as determined by large-scale exome sequencing studies. Most studies published thus far describe clinically diagnosed Coffin-Siris patients (ARID1B-CSS) and it is unclear whether these data are representative for patients identified through sequencing of unbiased ID cohorts (ARID1B-ID). We therefore sought to determine genotypic and phenotypic differences between ARID1B-ID and ARID1B-CSS. In parallel, we investigated the effect of different methods of phenotype reporting.
METHODS
Clinicians entered clinical data in an extensive web-based survey.
RESULTS
79 ARID1B-CSS and 64 ARID1B-ID patients were included. CSS-associated dysmorphic features, such as thick eyebrows, long eyelashes, thick alae nasi, long and/or broad philtrum, small nails and small or absent fifth distal phalanx and hypertrichosis, were observed significantly more often (p < 0.001) in ARID1B-CSS patients. No other significant differences were identified.
CONCLUSION
There are only minor differences between ARID1B-ID and ARID1B-CSS patients. ARID1B-related disorders seem to consist of a spectrum, and patients should be managed similarly. We demonstrated that data collection methods without an explicit option to report the absence of a feature (such as most Human Phenotype Ontology-based methods) tended to underestimate gene-related features.
Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Chromosomal Proteins, Non-Histone; DNA-Binding Proteins; Exome; Face; Female; Genetic Association Studies; Genetic Variation; Hand Deformities, Congenital; Humans; Infant; Infant, Newborn; Intellectual Disability; Male; Micrognathism; Middle Aged; Mutation; Neck; Penetrance; Transcription Factors
PubMed: 30349098
DOI: 10.1038/s41436-018-0330-z -
American Journal of Obstetrics and... Nov 2019
Topics: Delivery, Obstetric; Diagnosis, Differential; Female; Fetus; Genetic Testing; Humans; Micrognathism; Pregnancy; Prognosis; Ultrasonography, Prenatal
PubMed: 31679587
DOI: 10.1016/j.ajog.2019.08.051 -
Journal of Ayub Medical College,... 2019Yunis-Varon syndrome is a rare autosomal recessive disorder with characteristic facial features and limb anomalies. We report a neonate born to consanguineously married...
Yunis-Varon syndrome is a rare autosomal recessive disorder with characteristic facial features and limb anomalies. We report a neonate born to consanguineously married normal parents with typical clinical and radiologic features of Yunis-Varon syndrome along with complete cleft lip and palate: an infrequent association. The family had two previous babies with similar features who died in infancy. This is a first reported case of Yunis-Varon syndrome in Pakistan.
Topics: Cleft Lip; Cleft Palate; Cleidocranial Dysplasia; Consanguinity; Ectodermal Dysplasia; Fatal Outcome; Female; Humans; Infant, Newborn; Limb Deformities, Congenital; Micrognathism; Pakistan
PubMed: 31094135
DOI: No ID Found -
Orphanet Journal of Rare Diseases Sep 2015Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate... (Review)
Review
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical facial characteristics during childhood comprise a small mouth with full lips and micro-retrognathia. During ageing, a narrow, convex nose becomes more prominent. The diagnosis MGS should be considered in patients with at least two of the three features of the clinical triad of microtia, patellar anomalies, and pre- and postnatal growth retardation. In patients with short stature and/or microtia, the patellae should be assessed with care by ultrasonography before age 6 or radiography thereafter. Mutations in one of five genes (ORC1, ORC4, ORC6, CDT1, and CDC6) of the pre-replication complex, involved in DNA-replication, are detected in approximately 67-78% of patients with MGS. Patients with ORC1 and ORC4 mutations appear to have the most severe short stature and microcephaly. Management should be directed towards in-depth investigation, treatment and prevention of associated problems, such as growth retardation, feeding problems, hearing loss, luxating patellae, knee pain, gonarthrosis, and possible pulmonary complications due to congenital pulmonary emphysema with or without broncho- or laryngomalacia. Growth hormone treatment is ineffective in most patients with MGS, but may be effective in patients in whom growth continues to decrease after the first year of life (usually growth velocity normalizes after the first year) and with low levels of IGF1. At present, few data is available about reproduction of females with MGS, but the risk of premature labor might be increased. Here, we propose experience-based guidelines for the regular care and treatment of MGS patients.
Topics: Abnormalities, Multiple; Congenital Microtia; Female; Growth Disorders; Humans; Male; Micrognathism; Patella; Urogenital Abnormalities
PubMed: 26381604
DOI: 10.1186/s13023-015-0322-x -
Clinics in Plastic Surgery Jul 2021A combined surgical and orthodontic approach to midface and mandibular distraction optimizes stability and outcomes. Orthodontic considerations include proper planning... (Review)
Review
A combined surgical and orthodontic approach to midface and mandibular distraction optimizes stability and outcomes. Orthodontic considerations include proper planning of the distraction vector, appropriate device use, and thorough follow-up through the consolidation and postoperative period. The dental occlusion must be managed throughout treatment in order to achieve ideal results.
Topics: Humans; Male; Mandible; Maxilla; Micrognathism; Orthognathic Surgical Procedures; Osteogenesis, Distraction
PubMed: 34051904
DOI: 10.1016/j.cps.2021.02.009 -
Genetics in Medicine : Official Journal... Nov 2023Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy...
PURPOSE
Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data on a large cohort.
METHODS
Clinical symptoms for 41 novel and 24 previously published affected individuals were analyzed using the Human Phenotype Ontology. For genotype-phenotype correlations, molecular data were standardized and grouped into non-truncating and likely gene-disrupting (LGD) variants. Missense variant protein expression and BAF-subunit interactions were examined using 3D protein modeling, co-immunoprecipitation, and proximity-ligation assays.
RESULTS
Neurodevelopmental delay with intellectual disability, muscular hypotonia, and behavioral disorders were the major manifestations. Clinical hallmarks of BAFopathies were rare. Clinical presentation differed significantly, with LGD variants being predominantly inherited and associated with mildly reduced or normal cognitive development, whereas non-truncating variants were mostly de novo and presented with severe developmental delay. These distinct manifestations and non-truncating variant clustering in functional domains suggest different pathomechanisms. In vitro testing showed decreased protein expression for N-terminal missense variants similar to LGD.
CONCLUSION
This study improved SMARCC2 variant classification and identified discernible SMARCC2-associated phenotypes for LGD and non-truncating variants, which were distinct from other BAFopathies. The pathomechanism of most non-truncating variants has yet to be investigated.
Topics: Humans; Abnormalities, Multiple; Face; Micrognathism; Intellectual Disability; Facies; Neurodevelopmental Disorders; Phenotype; DNA-Binding Proteins; Transcription Factors
PubMed: 37551667
DOI: 10.1016/j.gim.2023.100950 -
Neurological Sciences : Official... Feb 2021Coffin-Siris syndrome is a rare genetic disorder defined by the presence of particular facial traits, congenital malformations, intellectual disability, and speech...
Coffin-Siris syndrome is a rare genetic disorder defined by the presence of particular facial traits, congenital malformations, intellectual disability, and speech impairment. Epilepsy in Coffin-Siris syndrome has only occasionally been reported, and its features are poorly defined. We provide a detailed description of the clinical and instrumental findings of three patients with Coffin-Siris syndrome and epilepsy. The clinical diagnosis in our patients was confirmed by molecular analysis, which identified the presence of de novo mutations of ARID1B and SMARCB1 genes, in two patients and one patient, respectively. All the patients presented with epilepsy, with a mean age of seizure onset of 5.5 years. Seizures were brief and had a focal onset with secondary generalization. Electroencephalographic recording documented a unilateral, and less commonly bilateral, paroxysmal activity in the temporal, parietal, and occipital regions. Clinical response to anticonvulsive therapy was satisfactory, with a low rate of seizure recurrence. Our case series contributes to delineate the phenotype of Coffin-Siris syndrome. We wish this report could pave the way for further studies that will better define the prevalence and clinical manifestations of epilepsy in this rare syndrome.
Topics: Abnormalities, Multiple; Child, Preschool; Chromosomal Proteins, Non-Histone; DNA-Binding Proteins; Epilepsy; Face; Hand Deformities, Congenital; Humans; Intellectual Disability; Micrognathism; Neck
PubMed: 33006724
DOI: 10.1007/s10072-020-04782-y -
Current Osteoporosis Reports Feb 2016The SOXC group of transcription factors, composed of SOX4, SOX11, and SOX12, has evolved to fulfill key functions in cell fate determination. Expressed in many types of... (Review)
Review
The SOXC group of transcription factors, composed of SOX4, SOX11, and SOX12, has evolved to fulfill key functions in cell fate determination. Expressed in many types of progenitor/stem cells, including skeletal progenitors, SOXC proteins potentiate pathways critical for cell survival and differentiation. As skeletogenesis unfolds, SOXC proteins ensure cartilage primordia delineation by amplifying canonical WNT signaling and antagonizing the chondrogenic action of SOX9 in perichondrium and presumptive articular joint cells. They then ensure skeletal elongation by inducing growth plate formation via enabling non-canonical WNT signaling. Human studies have associated SOX4 with bone mineral density and fracture risk in osteoporotic patients, and SOX11 with Coffin-Siris, a syndrome that includes skeletal dysmorphism. Meanwhile, in vitro and mouse studies have suggested important cell-autonomous roles for SOXC proteins in osteoblastogenesis. We here review current knowledge and gaps in understanding of SOXC protein functions, with an emphasis on the skeleton and possible links to osteoporosis.
Topics: Abnormalities, Multiple; Animals; Bone Density; Bone Development; Cell Differentiation; Chondrogenesis; Face; Hand Deformities, Congenital; Humans; Intellectual Disability; Mice; Micrognathism; Neck; Osteoblasts; Osteoporotic Fractures; SOX9 Transcription Factor; SOXC Transcription Factors; Stem Cells; Wnt Signaling Pathway
PubMed: 26830765
DOI: 10.1007/s11914-016-0296-1