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Sotos syndrome is a genetic disorder characterized by distinct craniofacial features, overgrowth in childhood, and impaired intellectual development. We herein report the successful orthodontic treatment of a 14-year-old boy with Sotos syndrome caused by a heterozygous mutation in the NSD1 gene. He showed severe hypodontia, impaction of the maxillary second molars and a skeletal Class III jaw-base relationship. Orthodontic management, including space control by protraction of the maxillary first molars and traction of the impacted molars, was performed using fixed appliances and miniscrews. As a result, acceptable occlusion was obtained without any discernible relapse 18 months postretention. [ABSTRACT FROM AUTHOR]

Background: Necrotizing pneumonia caused by methicillin-resistant Staphylococcus aureus can lead to the formation of pneumatoceles in the lungs. Standard treatment guidelines are not available due to the rarity of pneumatoceles in neo- nates. Clinical Findings: Baby H. required prolonged respiratory support and supplemental oxygen to maintain appropriate oxygen saturation parameters for infants more than 34 weeks’ gestation corrected. He was found to have multiple pneu- matoceles in both lungs on different radiological modalities. Primary Diagnosis: Baby H. was a former 32.2-week gestation male infant diagnosed with pneumonia caused by nec- rotizing methicillin-resistant Staphylococcus aureus leading to pneumatocele formation in both lungs. Interventions: Baby H. was managed with aggressive antibiotic therapy and then was conservatively managed until he received a tracheostomy tube on day of life (DOL) 75 to prepare for discharge home. Outcomes: Baby H. was discharged from the neonatal intensive care unit (NICU) on DOL 113 with a tracheostomy tube for prolonged mechanical ventilatory support and a gastrostomy tube for nutrition. Numerous follow-up appointments with specialists have occurred since discharge. Practice Recommendations: While methicillin-resistant Staphylococcus aureus pneumatoceles are uncommon in the NICU setting, it is important for neonatal care providers to be aware of the causes and treatment choices currently avail- able. Although conservative therapy is commonly utilized, it is important that nurses learn other available management strategies such as the ones highlighted in this article to best advocate for their patients. [ABSTRACT FROM AUTHOR]

Sotos syndrome is an autosomal dominant genetic disorder caused by mutations in the NSD1 gene. In this study, we report a case of Sotos syndrome in a preterm infant. The main clinical manifestations were severe bronchopulmonary dysplasia, congenital heart disease, difficulty feeding, and characteristic facial appearance. The gene mutation was located at 177251854 on chromosome 5, and identified as a shear mutation, c.4765+1 G > A, which is a new mutation. The patient recovered well after symptomatic treatment. To the best of our knowledge, this is the first case of a preterm infant in whom a novel c.4765+1 G > A mutation in the NSD1 gene was identified. When premature infants present with abnormally severe bronchopulmonary dysplasia, feeding difficulties, and other congenital anomalies, Sotos syndrome should be considered. [ABSTRACT FROM AUTHOR]

Study Design: Case report. Objective: Sotos syndrome is a rare genetic disorder which is characterized by excessive physical growth during the first few years of life. The principal features of this condition include macrocephaly, learning disability and physical overgrowth. The current diagnosis of Sotos Syndrome is based on identification of genetic mutations and deletions in the NSD family (the N uclear-receptor-binding S ET- D omain containing protein). Single suture craniosynostosis has been reported in a few cases of Sotos syndrome. We report an atypical presentation of multi-suture craniosynostosis in a child with Sotos Syndrome. Methods: The initial phenotypical presentation was consistent with left coronal craniosynostosis. She underwent strip suturectomy and orthotic helmeting with failure to correct her anterior plagiocephaly and orbital dysmorphology. Additional post-operative investigations revealed a multi-suture craniosynostosis. She subsequently underwent an anterior cranial vault reconstruction and fronto-orbital advancement. Conclusions: Sotos Syndrome can be associated with single or multi-suture craniosynostosis. This is likely driven by the overgrowth status of this disease. In our case report, the patient presents with unicoronal craniosynostosis which progressed to multi-suture craniosynostosis. Therefore, a multidisciplinary approach and close monitoring by craniofacial surgeons, neurosurgeons, developmental paediatricians and other allied teams is required in the care of such patients. [ABSTRACT FROM AUTHOR]

Objective: To determine the fetal ultrasound findings associated with Sotos syndrome caused by deletions at 5q35 including the NSD1 and a point mutation in this gene.Study Design: This was a retrospective study of eight pregnancies with fetal Sotos syndrome identified by chromosomal microarray (CMA)/whole exome sequencing (WES). Clinical and laboratory data were collected and reviewed for these cases.Results: Two cases had no significant fetal abnormalities, and were only diagnosed after birth. One case presented in the first trimester with increased nuchal translucency. The remaining five fetuses were identified at late gestation. One of the five fetuses presented in the second trimester with mild ventriculomegaly, and four in the third trimester with mild ventriculomegaly, macrocephaly and polyhydramnios. CMA was done on all cases and revealed 5q35 deletions in seven cases, and WES detected a maternally inherited NSD1 variant in one case.Conclusion: The fetal ultrasound findings in cases with Sotos syndrome, associated with deletions at 5q35 and a point mutation in the NSD1 are not specific with the most common finding being mild ventriculomegaly. [ABSTRACT FROM AUTHOR]

Sotos syndrome (SS) is characterized by overgrowth, distinctive facial appearance, and learning disability. It is caused by heterozygous mutations, including deletions of NSD1 located at chromosome 5q35. While advanced bone age can occur in some cases, precocious puberty (PP) has only been reported in three cases previously. Here, we reported a case of SS diagnosed in the infancy period with central PP. The discovery of potential factors that trigger puberty is one of the central mysteries of pubertal biology. Depot gonadotropinreleasing hormone analogs constitute the first-line therapy in central PP (CPP), which has proven to be both effective and safe. In our cases, leuprolide acetate at maximum dose was not successful in controlling pubertal progression, and cyproterone acetate (CPA) was added to therapy, with successful control of pubertal progression. In some specific syndromes with PP, such as SS, treatment can be challenging. CPA may be an asset for effective treatment. [ABSTRACT FROM AUTHOR]

Sotos syndrome is a rare genetic disorder which is characterised by a triad of distinctive facial appearance overgrowth in childhood, learning disabilities and also associated with a wide range of abnormalities. Sotos syndrome also characterizes a unique constellation of signs and symptoms including musculoskeletal findings such as scoliosis, generalized ligamentous laxity and increased growth rates. According to the recent findings the NSD1 gene mutation was responsible for Sotos syndrome and its genetic disorders with a wide NSD1 alteration. Sotos syndrome is also not life threatening when compared with other syndromes and Sotos syndrome can also be treated and prevented globally among infants and children. AIM: The aim of this study is to analyse the awareness on Sotos Sotos syndrome among dental students. MATERIALS AND METHOD: A questionnaire based survey was conducted among dental students to assess the level of knowledge and awareness about Sotos syndrome. The sample size of this study is 100. The questionnaire consisted of 15 questions. Online study setting was used to collect data. Results were analysed using SPSS software. RESULTS: The data was imported to SPSS version 23 and the results were obtained using Chi-square test. Out of which only 36.84% of students were aware of the term Sotos syndrome, 40.35% of them said that the term Sotos Syndrome refers to Overgrowth syndrome, 77.19% of students said it was mostly infants and children affected, 61.40% of students were not aware of the diagnosis, 33.33% & 35.09% of them said Sotos Syndrome can be prevented and treated respectively. CONCLUSION: From this study we come to know that most dental students are aware of Sotos syndrome but not the causes and effects to which people are affected and also the way it can be treated and prevented. [ABSTRACT FROM AUTHOR]

The article presents a case study of a 20-month-old boy with Sotos syndrome due to NSD-1 gene microdeletion. Topics include COVID-19 children developing underlying diseases including chromosomal or genetic abnormality; and having deafness, hypothyroidism and vesicoureteral reflux, but no congenital heart disease.

Background: Sotos syndrome is a congenital overgrowth condition associated with intellectual disability and an uneven cognitive profile. Previous research has established that individuals with Sotos syndrome have relatively poor mathematical ability, but domain‐specific numeracy skills have not been explored within this population. This study investigated the approximate number system (ANS) in Sotos syndrome. Method: A dot comparison task was administered to 20 participants with Sotos syndrome (mean age in years = 18.43, SD = 9.29). Performance was compared to a chronological agematched typically developing control group (n = 25) and a mental age‐matched Williams syndrome group (n = 24). Results: The Sotos group did not display an ANS deficit overall when compared to chronological agematched control participants. However, for trials where the size of the individual dots and the envelope area were negatively correlated with the total number of dots (incongruent trials), the Sotos group were less accurate than the typically developing group but more accurate than the Williams syndrome group, suggesting an inhibitory control deficit. Better accuracy on incongruent trials, but not congruent trials, was associated with higher quantitative reasoning ability for participants with Sotos syndrome. Conclusion: Overall, the findings suggest that ANS acuity is not impaired in Sotos syndrome but that numerical difficulties may be associated with an inhibitory control deficit for individuals with Sotos syndrome. [ABSTRACT FROM AUTHOR]

Sotos syndrome is a congenital overgrowth syndrome associated with intellectual disability. This study investigated communicative abilities of children with Sotos syndrome (n = 31), using the Children's Communication Checklist, second edition. A cross-syndrome approach was used to establish the specificity of these abilities. Children with Williams syndrome (n = 34) were used as a comparison group. In both groups, the majority of participants had communicative impairment. Children with Sotos syndrome had an uneven pragmatic language profile and greater impairment with social relations, compared with restricted interests. Overall, children with Sotos syndrome had difficulties with both language structure and pragmatic language and a specific profile of relative difficulty with using nonverbal communication, using context-appropriate language and understanding peer relationships. [ABSTRACT FROM AUTHOR]

Introduction Sotos syndrome is a congenital overgrowth disorder characterized by facial gestalt, excessively rapid growth, acromegalic features and a non-progressive cerebral disorder with intellectual disability. Methodology The identical male twins showed somewhat different clinical, cognitive and behavioural phenotypes. Abnormal clinical manifestations including seizures, scoliosis, enlarged ventricles, and attention-deficit/hyperactivity disorder (ADHD) were found in the proband (first twin), but not in the sibling (second twin). We used diagnostic exome sequencing (DES) to identify a heterozygous de novo mutation of the NSD1 gene in monozygotic twins with Sotos syndrome. Results DES revealed a novel nonsense mutation c.2596G > T ( p.Glu866* ) of the NSD1 gene in the proband, the first of monozygotic twins. Sanger sequencing analysis of the proband and his family members showed that this nonsense mutation was present in the proband and his sibling, but was absent in their parents, indicating that it occurred with de novo origin. Conclusion This finding expands the phenotypic spectrum associated with variable expression of the Sotos syndrome caused by NSD1 mutation, and it adds further support for postconceptual mutation, epigenetic change and/or an environmental factor involved in the cause of the Sotos syndrome. [ABSTRACT FROM AUTHOR]

Sotos syndrome is a congenital overgrowth disorder with an incidence of approximately 1 in 14,000. This study investigated behavioural characteristics of ASD within a large cohort of individuals with Sotos syndrome (n = 78). As measured by the Social Responsiveness Scale, second edition (SRS-2), 65 participants (83.33 %) met clinical cut-off (T-score ≥60). There was no significant gender difference in symptom severity. There was a significant effect of age, with lower scores observed in early childhood and adulthood, compared to childhood. Furthermore, individuals with Sotos syndrome appear to display a trait profile that is similar to that identified in ASD. Overall, these findings indicate that the majority of individuals with Sotos syndrome display clinically significant behavioural symptomatology associated with ASD. [ABSTRACT FROM AUTHOR]

Most histone methyltransferases (HMTase) harbor a predicted Su(var)3-9, Enhancer-of-zeste, Trithorax (SET) domain, which transfers a methyl group to a lysine residue in their substrates. Mutations of the SET domains were reported to cause intellectual disability syndromes such as Sotos, Weaver, or Kabuki syndromes. Sotos syndrome is an overgrowth syndrome with intellectual disability caused by haploinsufficiency of the nuclear receptor binding SET domain protein 1 (NSD1) gene, an HMTase at 5q35.2-35.3. Here, we analyzed NSD1 in 34 Brazilian Sotos patients and identified three novel and eight known mutations. Using protein modeling and bioinformatic approaches, we evaluated the effects of one novel (I2007F) and 21 previously reported missense mutations in the SET domain. For the I2007F mutation, we observed conformational change and loss of structural stability in Molecular Dynamics (MD) simulations which may lead to loss-of-function of the SET domain. For six mutations near the ligand-binding site we observed in simulations steric clashes with neighboring side chains near the substrate S-Adenosyl methionine (SAM) binding site, which may disrupt the enzymatic activity of NSD1. These results point to a structural mechanism underlying the pathology of the NSD1 missense mutations in the SET domain in Sotos syndrome. NSD1 mutations were identified in only 32% of the Brazilian Sotos patients in our study cohort suggesting other genes (including unknown disease genes) underlie the molecular etiology for the majority of these patients. Our studies also found NSD1 expression to be profound in human fetal brain and cerebellum, accounting for prenatal onset and hypoplasia of cerebellar vermis seen in Sotos syndrome. [ABSTRACT FROM AUTHOR]

The case of a fetus with a de novo microdeletion in NSD1 associated with Sotos syndrome characterized by fetal growth restriction is described. [ABSTRACT FROM AUTHOR]

Sotos syndrome is a rare sporadic genetic disorder characterized by pathognomonic facial features, motor developmental delay induced by hypotonia, learning difficulties, and cardiac and renal anomalies. This report describes the case of a 4-year-old child with Sotos syndrome who underwent a right hydrocelectomy under general anesthesia. We report our experience with airway management, choice of anesthetic drugs, and other anesthetic implications in Sotos syndrome. [ABSTRACT FROM AUTHOR]

Sotos syndrome or cerebral gigantism is a syndrome of accelerated overgrowth during childhood with characteristic facial features and learning disabilities. It includes behavioral disorders and neuropsychiatric signs such as attention deficits, social inhibition, psychomotor delay and clumsiness, tantrums and aggressiveness. We describe a case of 9 years old male individual with Sotos syndrome who exhibits oppositional behaviour, impulsiveness and aggressiveness. [ABSTRACT FROM AUTHOR]

Abstract: Objective: Soto's syndrome is a genetic disorder caused by mutations in the NSD1 gene. It is characterized by excessive growth in early life. It features craniofacial abnormalities, developmental delay, hypotonia and advanced bone age. A review of the current literature reveals only chronic otitis media and conductive hearing loss as otolaryngologic manifestations of Soto's syndrome. Our objective was to determine if there are additional manifestations relevant to the otolaryngologist. Methods: We performed a retrospective case series in which the Department of Defense electronic medical record was searched for ICD 9 code 253.0 (acromegaly/gigantism). Records were reviewed for genetic testing indicative of Soto's syndrome. These records were further analyzed for evidence of otolaryngologic problems. Results: Seventeen patients were identified with five having confirmed NSD1 mutations consistent with Soto's syndrome. Of these, 4/5 had otolaryngologic problems such as conductive hearing loss, aspiration, laryngomalacia, obstructive sleep apnea and sensorineural hearing loss. Conclusions: Currently there is no description in the literature of these additional manifestations of Soto's syndrome. We present this case series to support the idea that an otolaryngologist should be involved in the multidisciplinary care required for these patients. [Copyright &y& Elsevier]

Sotos syndrome is one of the most common overgrowth diseases and it predisposes patients to cancer, generally in childhood. The prevalence of this genetic disorder is 1:10,000–1:50,000, and it is characterized by wide allelic heterogeneity, with more than 100 different known mutations in the nuclear receptor-binding SET domain containing protein 1 (NSD1) gene. Most of these alterations are deletions and common micro-deletions with haploinsufficiency. Singular variants are missense mutations. The present study reports a case of a 4-year-old boy with specific clinical features of Sotos syndrome and a particular complex skin hamartoma on the right femoral side, in addition to other minor findings, such as a "café-au-lait" spot on the right hemithorax and syndactyly of the second and third right toes. NSD1 gene analysis identified a de novo missense mutation, "c.[5867T>A]+[=]"; "p.[Leu1956Gln]+[=]", that was not previously described in the literature. This mutation was localized to the functional domain of the gene and was likely the cause of Sotos syndrome in our patient. We also compared aspects of our patient's condition with the clinical features of tuberous sclerosis (TSC), which is an autosomal neurocutaneous syndrome caused by mutations in the TSC1/TSC2 genes. These genes control cell growth and cell survival. This disorder is characterized by hamartomas in multiple organ systems, several coetaneous abnormalities, epilepsy, and increased risk of several types of tumors. [ABSTRACT FROM AUTHOR]