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Aim: This case study delineates a minimally invasive and effective approach for the aesthetic and functional restoration of teeth in a patient with Rubinstein-Taybi syndrome (RTS), focusing on the challenges and strategies tailored to their specific dental care needs., Methods and Results: A 20-year-old patient diagnosed with RTS presented at the Pediatric Dentistry Department for a comprehensive dental assessment and care. The individual's genetic condition manifested in unique dental and craniofacial anomalies, complicating standard dental procedures. Following an initial consultation that underscored limited cooperation due to intellectual disabilities, a customized treatment plan was developed. This included behavior modification techniques to acclimate the patient to dental settings and procedures. Utilizing "simplified technologies" such as volumetric polymerization composites and self-etching primer and adhesive systems, tooth 36 was successfully treated. The approach showcased the potential for dental care in RTS patients with minimal sedation, prioritizing patient comfort and cooperation., Conclusion: The successful dental treatment of the RTS patient highlights the importance of patient-centered, minimally invasive approaches in managing individuals with special healthcare needs. Emphasizing continuity of care and prioritizing restorative treatments facilitated significant improvements in oral health and patient cooperation. This case contributes to the sparse literature on dental care for RTS patients, advocating for specialized strategies to address their comprehensive oral health needs. The findings underscore the necessity for interdisciplinary collaboration and innovative care protocols to ensure effective and empathetic dental treatment for individuals with RTS., (© 2024 Special Care Dentistry Association and Wiley Periodicals LLC.)

We report the case of an 8-month-old infant born at 33 weeks' gestation referred to our institution for evaluation of left eye abduction deficit and microcephaly. Ophthalmic examination revealed a left eye abduction deficit with palpebral fissure narrowing on adduction along with palpebral fissure widening on abduction, consistent with Duane syndrome. Genetic testing revealed a pathogenic EP300 mutation confirming Rubinstein-Taybi syndrome type II. The cooccurrence of Duane syndrome and Rubinstein-Taybi syndrome is rare, with only 3 cases in the literature, 2 with genetic confirmation. Potential involvement of the cranial nerves in Rubinstein-Taybi syndrome may explain its cooccurrence with Duane syndrome, which is seemingly more common in EP300-mediated disease., (Copyright © 2024 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.)

Pterygium is a benign, wing-shaped fibrovascular overgrowth of subconjunctival tissue that can encroach over the cornea. This condition usually occurs in individuals aged 20-40 years but is rarely seen in children. We report a case of an infant with Rubenstein-Taybi syndrome presenting with nebulo-macular corneal opacity and congenital pterygium. On examination under anaesthesia, bilateral infero-nasal nebulo-macular corneal opacity (6 × 5 mm) with a whitish pink tissue originating from nasal bulbar conjunctiva was noticed. The probe test was negative for this tissue. To the best of our knowledge, only two other cases of congenital pterygium have been reported in the literature. The presence of this anomaly supports the hypothesis of genetic factors having a role in the development of pterygium., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2024. No commercial re-use. See rights and permissions. Published by BMJ.)

Rubinstein-Taybi syndrome, also known as broad thumb-hallux syndrome, is a rare autosomal dominant genetic disorder. This multiorgan syndrome is linked to a pathogenic mutation in the CREBBP or EBP300 genes.We present a patient with a hitherto unreported constellation of anterior segment abnormalities, including congenital glaucoma, congenital corneal keloid, cataract, and distinct facial and systemic features including a high-arched palate, low-set posteriorly rotated ears, Café-au-lait spots on the back, broad terminal phalanges of hands and feet, and bilateral cryptorchidism. The characteristic dysgenetic angle features and ultrasound biomicroscopic findings described in this case report show the occurrence of concomitant congenital keloid with glaucoma.Genetic testing revealed a heterozygous one-base pair duplication in exon 3 of the CREBBP gene (c.886dupC), a novel frameshift pathogenic mutation in the CREBBP gene that has not been previously reported in a clinical setting., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

In this study, we focus on Rubinstein-Taybi syndrome (RTS) to explore the associations between executive function deficits and repetitive behaviors. Thirty individuals with RTS completed direct assessments of inhibition, working memory and set-shifting. Informants completed repetitive behavior and executive function questionnaires. Repetitive questions were associated with poorer inhibition and working memory. Stereotypy was associated with poorer inhibition. Adherence to routines was associated with poorer set-shifting, but only on the parental report measure. No other associations were evident. There is evidence of an association between specific repetitive behaviors and executive functioning in RTS, suggesting executive dysfunction may underpin behavioral difference in RTS. The findings point towards specific associations that are of interest for further research across populations in which repetitive behaviors are present., (©AAIDD.)

Rubinstein-Taybi syndrome (RTS) is a rare genetic syndrome associated with growth delay, phenotypic facial characteristics, microcephaly, developmental delay, broad thumbs, and big toes. Most research on RTS has focused on the genotype and physical phenotype; however, several studies have described behavioral, cognitive, social, and emotional characteristics, elucidating the behavioral phenotype of RTS. The reporting of this review was informed by PRISMA guidelines. A systematic search of CINAHL, Medline, and PsychINFO was carried out in March 2021 to identify group studies describing behavioral, cognitive, emotional, psychiatric, and social characteristics in RTS. The studies were quality appraised. Characteristics reported include repetitive behavior, behaviors that challenge, intellectual disability, mental health difficulties, autism characteristics, and heightened sociability. Findings were largely consistent across studies, indicating that many characteristics are likely to form part of the behavioral phenotype of RTS. However, methodological limitations, such as a lack of appropriate comparison groups and inconsistency in measurement weaken these conclusions. There is a need for multi-disciplinary studies, combining genetic and psychological measurement expertise within single research studies. Recommendations are made for future research studies in RTS., (© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

Objective: The purpose of this study was to describe a detailed investigation of craniofacial and dental characteristics in a group of Brazilian Rubinstein-Taybi syndrome (RSTS) patients., Methods and Results: Thirteen RSTS patients treated in a special care dental clinic after 10 years were studied. Panoramic radiographs were obtained from all patients, and cephalometric analysis was performed in eight patients. Five male and eight white female patients with a median age of 11.7 years were analyzed. All the RSTS patients were mouth breathers and presented malocclusion, transverse hypoplastic maxilla, nine subjects (9/13; 69.2%) had posterior crossbite, and eight (61.53%) exhibited talon cusps. Most patients presented class II skeletal pattern and were brachycephalic. Regarding systemic disorders, one patient (7.69%) reported seizure episodes during childhood, and four patients (30.76%) presented heart valve disorders. All patients presented reduced attention span, low intolerance to dental interventions, impulsiveness, and irritability., Conclusions: Since RSTS exhibits oral and skeletal changes, early dental treatment is essential for these patients. Dentists must be aware of medical problems related to heart disease and persist in conditioning techniques to obtain cooperation and avoid dental care under general anesthesia., (© 2021 Special Care Dentistry Association and Wiley Periodicals LLC.)

Rubinstein-Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by variants in CREBBP or EP300 . Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, intellectual disability and immunodeficiency. Here we report on one RSTS patient who experienced hemophagocytic lymphohystiocytosis (HLH) and disseminated herpes virus 1 ( HSV-1) disease. The clinical picture of RSTS is expanding to include autoinflammatory, autoimmune, and infectious complications. Prompt treatment of HLH and disseminated HSV-1 can lower the mortality rate of these life-threatening conditions.

Introduction: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome caused primarily by a mutation in the CREBBP gene found on chromosome 16. Patients with RSTS are at greater risk for a variety of medical problems, including upper airway obstruction and aspiration. Childhood interstitial lung disease (ILD) thus far has not been definitively linked to RSTS. Here we present three patients with RSTS who developed ILD and discuss possible mechanisms by which a mutation in CREBBP may be involved in the development of ILD., Methods: Routine hematoxylin and eosin staining was performed on lung biopsy tissue for histological analysis. Immunofluorescent staining was performed on lung biopsy tissue for markers of fibrosis, surfactant deficiency and histone acetylation. Cases 1 and 2 had standard clinical microarray analysis. Case 3 had whole exome sequencing. Bioinformatics analyses were performed to identify possible causative genes using ToppGene., Results: Computed tomography images in all cases showed consolidated densities overlying ground glass opacities. Lung histopathology revealed accumulation of proteinaceous material within alveolar spaces, evidence of fibrosis, and increased alveolar macrophages. Immunofluorescent staining showed increase in surfactant protein C staining, patchy areas of increased anti-smooth muscle antibody staining, and increased staining for acetylated histone 2 and histone 3 lysine 9., Discussion: Clinical characteristics, radiographic imaging, lung histopathology, and immunofluorescent staining results shared by all cases demonstrated findings consistent with ILD. Immunofluorescent staining suggests two possible mechanisms for the development of ILD: abnormal surfactant metabolism and/or persistent activation of myofibroblasts. These two pathways could be related to dysfunctional CREBBP protein., (© 2021 Wiley Periodicals LLC.)

Rubinstein-Taybi syndrome is an extremely rare autosomal dominant genetic disorder that occurs in 1/125,000 and is characterized by distinctive facial appearance, short stature, mild to severe mental retardation, and higher risk for cancer. In addition, variable organ anomalies had been reported. Paraovarian cyst causing torsion of the ipsilateral fallopian tube is less common, with an estimated incidence of 1/1,500,000, but it can adversely affect tubal function. It occurs mainly in women in the reproductive age and is very rare in prepubescent girls. Here, we described the successful treatment of an extremely rare case of paraovarian cyst causing torsion of the ipsilateral fallopian tube in a patient with Rubinstein-Taybi syndrome. A 14-year-old girl with Rubinstein-Taybi syndrome was referred to our hospital for abdominal pain. Her medical history was unremarkable, except for moderate hirsutism and keloid scar. Physical examination revealed tenderness in the lower abdominal midline. The preoperative diagnosis was torsion of a left ovarian cyst. An exploratory laparoscopy was performed because of acute abdominal pain and revealed a left fallopian tube that was twisted twice due to an ipsilateral paraovarian cyst. The huge paraovarian cyst required laparotomy cystectomy, and the left ovary was preserved. Her postoperative course was uncomplicated. Preoperative diagnosis of paraovarian cysts can be difficult. The moderate hirsutism seen in our patient suggested the presence of a large paraovarian cyst due to androgen receptor-mediated effects. Therefore, Rubinstein-Taybi syndrome patients with hirsutism should be screened and assessed by pediatric surgeons for the presence of paraovarian cysts.

Competing Interests: None

Although recurrent infections in Rubinstein-Taybi syndrome (RSTS) are common, and probably multifactorial, immunological abnormalities have not been extensively described with only isolated cases or small case series of immune deficiency and dysregulation having been reported. The objective of this study was to investigate primary immunodeficiency (PID) and immune dysregulation in an international cohort of patients with RSTS. All published cases of RSTS were identified. The corresponding authors and researchers involved in the diagnosis of inborn errors of immunity or genetic syndromes were contacted to obtain up-to-date clinical and immunological information. Ninety-seven RSTS patients were identified. For 45 patients, we retrieved data from the published reports while for 52 patients, a clinical update was provided. Recurrent or severe infections, autoimmune/autoinflammatory complications, and lymphoproliferation were observed in 72.1%, 12.3%, and 8.2% of patients. Syndromic immunodeficiency was diagnosed in 46.4% of individuals. Despite the broad heterogeneity of immunodeficiency disorders, antibody defects were observed in 11.3% of subjects. In particular, these patients presented hypogammaglobulinemia associated with low B cell counts and reduction of switched memory B cell numbers. Immunoglobulin replacement therapy, antibiotic prophylaxis, and immunosuppressive treatment were employed in 16.4%, 8.2%, and 9.8% of patients, respectively. Manifestations of immune dysfunctions, affecting mostly B cells, are more common than previously recognized in patients with RSTS. Full immunological assessment is warranted in these patients, who may require detailed investigation and specific supportive treatment. Graphical Abstract.

Objective: Genetic aetiology remains unknown in up to 50% of patients with persistent hyperinsulinaemic hypoglycaemia (HH). Several syndromes are associated with HH. We report Rubinstein-Taybi syndrome (RSTS) as one of the possible causes of persistent HH. Early diagnosis and treatment of HH is crucial to prevent hypoglycaemic brain injury., Design: Four RSTS patients with HH were retrospectively analysed., Methods: Genetic investigations included next-generation sequencing-based gene panels and exome sequencing. Clinical characteristics, metabolic profile during hypoglycaemia and treatment were reviewed., Results: Disease-related EP300 or CREBBP variants were found in all patients, no pathogenic variants were found in a panel of genes associated with non-syndromic HH. Two patients had classic manifestations of RSTS, three had choanal atresia or stenosis. Diagnosis of HH varied from 1 day to 18 months of age. One patient was unresponsive to treatment with diazoxide, octreotide and nifedipine, but responded to sirolimus. All required gastrostomy feeding., Conclusions: Given the rarity of RSTS (1:125 000) and HH (1:50 000), our observations indicate an association between these two conditions. We therefore recommend that clinicians should be vigilant in screening for HH in symptomatic infants with RSTS. In children with an apparent syndromic form of HH, RSTS should be considered in the differential diagnosis.

Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder, mainly characterized by postnatal growth retardation, intellectual disability, and facial and limb abnormalities. Although not considered as characteristic manifestations, numerous cutaneous anomalies have also been reported in patients with RSTS while there has been no report of desquamation so far in any patients with RSTS. We report an unusual case of RSTS in an 8-year-old boy who presented with the typical facial and limb abnormalities of RSTS accompanied with apparent hirsutism and desquamation, but without apparent intellectual disability. Whole exome sequencing identified a novel mutation in the bromodomain of CREBBP (c.3503A>G, p.N1168S), which was further confirmed by targeted Sanger sequencing in comparison with healthy controls. Our findings expand the spectra of genetic mutations and clinical presentations associated with RSTS, and underline the importance of maintaining high awareness of rare presentations and diagnostic difficulties in management of rare genetic diseases such as RSTS., (© 2019 British Association of Dermatologists.)

Rubinstein-Taybi syndrome (RSTS) is a multiple congenital anomalies syndrome associated with mutations in CREBBP (70%) and EP300 (5-10%). Previous reports have suggested an increased incidence of specific benign and possibly also malignant tumors. We identified all known individuals diagnosed with RSTS in the Netherlands until 2015 (n = 87) and studied the incidence and character of neoplastic tumors in relation to their CREBBP/EP300 alterations. The population-based Dutch RSTS data are compared to similar data of the Dutch general population and to an overview of case reports and series of all RSTS individuals with tumors reported in the literature to date. Using the Nationwide Network and Registry of Histopathology and Cytopathology in the Netherlands (PALGA Foundation), 35 benign and malignant tumors were observed in 26/87 individuals. Meningiomas and pilomatricomas were the most frequent benign tumors and their incidence was significantly elevated in comparison to the general Dutch population. Five malignant tumors were observed in four persons with RSTS (medulloblastoma; diffuse large-cell B-cell lymphoma; breast cancer; non-small cell lung carcinoma; colon carcinoma). No clear genotype-phenotype correlation became evident. The Dutch population-based data and reported case studies underscore the increased incidence of meningiomas and pilomatricomas in individuals with RSTS. There is no supporting evidence for an increased risk for malignant tumors in individuals with RSTS, however, due to the small numbers this risk may not be fully dismissed., (© 2018 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.)

Rubinstein-Taybi syndrome (RTS) is a rare autosomal dominant disorder that occurs due to a microdeletion of chromosome 16p13. The craniofacial abnormalities in these patients may pose a challenge for anaesthetist performing tracheal intubation. However, there are no known reported cases of drug interaction with non-depolarising muscle relaxant in patients with RTS. This young patient with RTS presented with an unexpected prolonged atracurium effect during the course of anaesthesia. After ruling out other possible causes, we have come to a conclusion that RTS itself could have played a role in the prolonged effect of atracurium. However, further studies will be needed to confirm this hypothesis. In the meantime, care should be used when using muscle relaxants in patients with RTS., Competing Interests: Competing interests: All authors have no relevant financial interest in this manuscript and no activities, affiliations or relationships to disclose. All authors have not published or submitted any related papers from the same study., (© BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

A male preterm infant was born with dysmorphic features consistent with Rubinstein-Taybi syndrome (RTS). An undescended right testicle was noted on examination. At 5 months of age he developed a palpable right-sided abdominal mass and an elevated alpha-fetoprotein. Histology revealed a malignant germ cell neoplasm arising within the undescended testis. This is the first reported case of a germ cell tumor occurring in a pediatric patient with RTS. Urologic abnormalities occur in approximately 52% of RTS patients, of which cryptorchidism is the commonest. Given the frequency of undescended testes in this population, closer screening may be warranted.

The developmental disorder Rubinstein-Taybi syndrome (RTS) is frequently complicated by recurrent respiratory infections. In many cases this is likely to be the result of microaspiration or gastro-oesophageal reflux but, in a proportion, underlying antibody deficiency is a potentially modifiable susceptibility factor for infection. Relatively subtle, specific defects of pneumococcal antibody production have previously been described in the context of RTS. Here, we report a rare association between the syndrome and an overt, major primary antibody deficiency disorder (common variable immune deficiency) which was successfully managed with immunoglobulin replacement therapy. Early recognition and investigation for antibody deficiency associated with RTS allied to effective and optimized treatment are essential to minimize morbidity and mortality and improve quality and duration of life., (© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Syndrome specific repetitive behavior profiles have been described previously. A detailed profile is absent for Rubinstein-Taybi syndrome (RTS). The Repetitive Behaviour Questionnaire and Social Communication Questionnaire were completed for children and adults with RTS (N = 87), Fragile-X (N = 196) and Down (N = 132) syndromes, and individuals reaching cut-off for autism spectrum disorder (N = 228). Total and matched group analyses were conducted. A phenotypic profile of repetitive behavior was found in RTS. The majority of behaviors in RTS were not associated with social-communication deficits or degree of disability. Repetitive behavior should be studied at a fine-grained level. A dissociation of the triad of impairments might be evident in RTS.

Rubinstein-Taybi syndrome (RSTS) is a rare condition with a prevalence of 1 in 125,000-720,000 births and characterized by clinical features that include facial, dental, and limb dysmorphology and growth retardation. Most cases of RSTS occur sporadically and are caused by de novo mutations. Cytogenetic or molecular abnormalities are detected in only 55% of RSTS cases. Previous genetic studies have yielded inconsistent results due to the variety of methods used for genetic analysis. The purpose of this study was to use whole exome sequencing (WES) to evaluate the genetic causes of RSTS in a young girl presenting with an Autism phenotype. We used the Autism diagnostic observation schedule (ADOS) and Autism diagnostic interview revised (ADI-R) to confirm her diagnosis of Autism. In addition, various questionnaires were used to evaluate other psychiatric features. We used WES to analyze the DNA sequences of the patient and her parents and to search for de novo variants. The patient showed all the typical features of Autism, WES revealed a de novo frameshift mutation in CREBBP and de novo sequence variants in TNC and IGFALS genes. Mutations in the CREBBP gene have been extensively reported in RSTS patients, while potential missense mutations in TNC and IGFALS genes have not previously been associated with RSTS. The TNC and IGFALS genes are involved in central nervous system development and growth. It is possible for patients with RSTS to have additional de novo variants that could account for previously unexplained phenotypes.

Rubinstein-Taybi syndrome is characterized by distinctive facial and limb features and is associated with several types of tumors. A 29-yr-old woman with this syndrome presented with a large, complex ovarian mass. She was subsequently diagnosed with a low-grade serous carcinoma of the ovary and an endometrioid adenocarcinoma of the uterus. Rubinstein-Taybi syndrome is an autosomal dominant, multiple congenital anomalies-mental retardation syndrome. Two genes, CREBBP and EP300, have been found to be associated with this disorder, although some cases do not have an identifiable cause. These genes code for proteins that acetylate histone tails, an epigenetic modification that serves to control transcription. They also serve as cofactors to several transcription factors and modulate p53. Although these patients have a predisposition to benign and malignant neoplasms, no malignant gynecologic neoplasm has been described thus far. Although no significant evidence linking CREBBP and EP300 to gynecologic malignancies has yet been found, some studies have suggested that hypoacetylation of histones may be involved in endometrial and ovarian carcinomas.

Medulloblastomas (MB) are classified in four subgroups: the well defined WNT and Sonic Hedgehog (SHH) subgroups, and the less defined groups 3 and 4. They occasionally occur in the context of a cancer predisposition syndrome. While germline APC mutations predispose to WNT MB, germline mutations in SUFU, PTCH1, and TP53 predispose to SHH tumors. We report on a child with a Rubinstein-Taybi syndrome (RTS) due to a germline deletion in CREBBP, who developed a MB. Biological profilings demonstrate that this tumor belongs to the group 3. RTS may therefore be the first predisposition syndrome identified for non-WNT/non-SHH MB., (© 2013 Wiley Periodicals, Inc.)

Ulerythema ophryogenes is a rare cutaneous atrophic disorder that occasionally is associated with Noonan syndrome, de Lange syndrome, Rubinstein-Taybi syndrome, and cardiofaciocutaneous (CFC) syndrome. Often presenting in pediatric patients, the pathogenesis of ulerythema ophryogenes remains unclear, though several genetic causes have been suggested. Treatment recommendations remain anecdotal, but clearance has been noted as the patient ages. Although topical agents have been the mainstay of therapy, recent advancement in laser intervention for treatment of ulerythema ophryogenes is promising.

Purpose: Long-term follow-up of patients with Rubinstein-Taybi-associated infantile glaucoma., Methods: Case series., Results: Three cases of infantile glaucoma in association with Rubinstein-Taybi syndrome are presented., Discussion: This report highlights the importance of measuring intraocular pressure in this condition, as glaucoma is one of the major preventable causes of blindness in childhood.

Chiari malformations are multifactorial and heterogeneous entities, characterized by abnormalities in the posterior fossa. They have been identified in association with various genetic syndromes in recent years. Two previous studies have noted an association of Chiari malformations with Rubinstein-Taybi syndrome (RTS). In this clinical report, we highlight identical twins with RTS caused by a mutation in CREBBP that presented with slightly different Chiari malformations in association with an extensive multiloculated syrinx and scoliosis. RTS has been found to be associated with craniocervical abnormalities in literature review, and this clinical report demonstrates the prudent consideration of the physician who cares for patients impacted by RTS to effectively screen via symptomatology and physical examination for Chiari pathology or other craniocervical abnormalities., (Copyright © 2011 Wiley Periodicals, Inc.)

The Rubinstein-Taybi syndrome is a rare syndrome of congenital disorders whose etiology is still unknown. Most RTS patients have musculoskeletal abnormalities which, if untreated, may significantly affect independent mobility. This paper presents the results of a surgical treatment of a 13-year-old patient with RTS and instability of the patellofemoral joint. The patient was followed up for 3 years. Surgery resulted in complete pain relief, increased knee range of motion and marked improvement in the patient's gait. An extensive plasty of the extensor apparatus of the knee joint increases the likelihood of a good and lasting treatment result in patients with RTS and instability of the patellofemoral joint.

Information in the medical literature regarding adults with genetic syndromes is limited, making the care of these patients challenging. We conducted a questionnaire study of adults with Rubinstein-Taybi syndrome that addressed medical problems, education, independence, and behavior. The most common medical problems included short stature, obesity, visual difficulties, keloids, eating problems, spine curvature, and joint problems. The adults had typically moderate mental retardation, but most achieved some independence in self-care and communication; many participated in supported work situations. However, approximately one-third were said to have some decreased abilities over time. Behavior problems were common and often worsened with age. Very few of the study participants were seeing a geneticist as an adult. Long-term involvement of geneticists and education of adult primary care providers may help with many of the challenges facing adults with RTS and their families., (Copyright © 2011 Wiley-Liss, Inc.)

A limited number of cases of anesthetic management of Rubinstein-Taybi Syndrome (RTS) have been reported since this syndrome was first diagnosed in 1963. After some well-publicized complications following anesthesia for patients with RTS, there has been great interest in avoiding all precipitant factors and careful monitoring during intraoperative and postoperative periods. This case series examines the cases of three pediatric patients with RTS who presented to the Children's Hospital of Michigan for different surgeries. We aim in this study to share information about this rare syndrome and to emphasize how this case series allowed us to improve our anesthetic management. In each case, we adjusted our techniques using information from preceding cases to avoid complications in the following encounter.

Rubinstein-Taybi syndrome (RSTS), a genetic disorder characterized by growth retardation, mental deficiency, dysmorphic face, broad thumbs and large toes, generally affects monozygotic twins concordantly. Thyroid hypoplasia (TH) is a common cause of congenital hypothyroidism (CH) and often accompanies dysmorphic syndromes. A pair of female twins were admitted to our neonatology unit 16 hours after delivery. They were born at 35 weeks of gestation. Both twins had an unusual dysmorphic facial appearance with microcephaly, as well as broad short thumbs and large toes. Based on the presence of characteristic dysmorphic features, the twins were diagnosed as RSTS. Thyroid function tests in the first twin revealed the following results: free thyroxine (T4) 8.4 pg/mL, thyrotropin (TSH) 4.62 mIU/L, thyroglobulin (TG) 213.24 ng/mL and a normal level of urinary iodine excretion (UIE). Thyroid function test results in the second twin in the second week were: free T4 5.9 pg/mL, TSH 9.02 mIU/L, TG 204.87 ng/mL, and normal UIE levels. Thyroid volumes were 0.36 mL and 0.31 mL in the first and second twin, respectively. TH was confirmed by technetium 99 m pertechnetate thyroid scans in both infants. Thyroid function tests normalized with L-thyroxine replacement therapy (10 μg/kg/day) around the end of the 3(rd) week of life. The infants were discharged planning their follow-up by both endocrinology and cardiology units. The rarity of cases of twins with RSTS (concordant) co-existing with CH led us to present this report., (©Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing.)

Unlabelled: The Rubinstein-Taybi syndrome (RTS) is defined congenital anomalies and is characterized by postnatal growth deficiency, microcephaly, specific facial characteristics, broad thumbs and big toes, and mental retardation. RTS displays an autosomal dominant inheritance pattern and is typically caused by cAMP response element-binding (CREB)-binding protein deficiency. Various complications such as eye anomalies and a variety of congenital heart defects are reported in such cases. We treated an RTS patient who had a dissecting aneurysm of the anterior cerebral artery. The patient was a 44-year-old man who was brought to our hospital because of sudden left hemiplegia. Magnetic resonance images showed a cerebral infarction caused by anterior cerebral artery dissection. Coil embolization was performed on enlargement of the dissecting aneurysm, and the procedure was successful., Conclusion: RTS may be accompanied by cerebrovascular disease.