Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

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Hospital Infantil Albert Sabin

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Hospital Universitário da UFJF

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Hospital Universitário Julio Müller (HUJM)

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Hospital Universitário João de Barros Barreto

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Hospital Universitário Lauro Wanderley (HULW)

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(83) 3206-0600 Site 4.3

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Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

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(81) 2122-4100 Site 4.2

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Hospital Pequeno Príncipe

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(41) 3360-1800 Site 3.7

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Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

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Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)

Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988

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(21) 2554-1700 4.7

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Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

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(51) 3320-3000 Site 3.1

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Hospital de Clínicas de Porto Alegre (HCPA)

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(51) 3359-8000 Site 4.5

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Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

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(48) 3721-9140 Site 3.4

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Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

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(11) 2661-0000 Site 4.2

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Hospital de Base de São José do Rio Preto

Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798

Atenção Especializada

(17) 3201-5000 Site 4.1

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Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

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(19) 3521-2121 Site 4.3

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Hospital de Clínicas de Ribeirão Preto (HCRP-USP)

R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187

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(16) 3602-1000 Site 4.6

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UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

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(11) 5576-4000 Site 3.7

Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford

Anomalias CongênitasErros Inatos do Metabolismo

Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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0 papers (10 anos)

#1

Noncirrhotic Portopulmonary Hypertension Due to Hepatoportal Sclerosis in Adams-Oliver Syndrome.

Pediatrics2026 Jan 01

A 13-year-old girl presented for evaluation of pulmonary hypertension after symptoms of dyspnea and exercise intolerance. Full evaluation was negative except for abdominal ultrasonography with splenomegaly and esophageal varices suggestive of portal hypertension. Cardiac and hepatic vein catheterization confirmed portopulmonary hypertension. Liver biopsy demonstrated sinusoidal dilatation, nodularity, and minimal fibrosis, which was interpreted as possible nodular regenerative hyperplasia but not cirrhosis. Radiographic imaging, including computed tomography venography, demonstrated an elongated and severely stenotic extrahepatic portal vein, and portal hypertension was presumed to be secondary to congenital portal vein hypoplasia. She was treated with ambrisentan with initial improvement in symptoms and estimated pulmonary pressure. Whole-exome sequencing revealed a likely pathogenic missense mutation in Delta-like canonical Notch ligand 4 associated with Adams-Oliver syndrome. After 2 years, pulmonary hypertension and right heart failure symptoms worsened, along with liver failure. She then had fulminant liver failure and cardiorespiratory arrest. Resuscitative efforts included extracorporeal membranous oxygenation (ECMO), but because of hypoxic brain injury, care was compassionately withdrawn. Autopsy limited to the thorax and abdomen revealed high-grade pulmonary plexiform arteriopathy, splenomegaly, esophageal varices, and large splenorenal shunt. The liver was small with a nodular surface but not fibrotic. The entire length of the extrahepatic portal vein was severely stenotic, and intrahepatic portal veins were missing or diminutive-findings diagnostic of hepatoportal sclerosis. Noncirrhotic portopulmonary hypertension is rare and should include evaluation of immunologic, infectious, toxic, thrombotic, and genetic etiologies. Unfortunately, there is no known treatment of hepatoportal sclerosis.

#2

Generation of three induced pluripotent stem cell clones from a functional single ventricle patient carrying the BRAF c.1897 T > C variant.

Stem cell research2026 Feb

Cardiofaciocutaneous syndrome is a genetic disorder characterized by congenital heart disease, developmental delays and ectodermal abnormalities. Cardiofaciocutaneous syndrome is caused by pathogenic variants in the genes of the RAS/MAPK pathway, particularly BRAF. However, the mechanism by which congenital heart defects arise in RASopathy patients is still poorly understood. Therefore, using non-integrating episomal vectors, we generated three hiPSC clones from peripheral blood mononuclear cells from a 33-year old male carrying a c.1897 T > C missense variant in the BRAF gene, who was born with pulmonary stenosis, tricuspid atresia and hypoplastic right ventricle, consistent with a functional single ventricle. Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population. The diagnosis of Noonan is established in a proband with suggestive findings and a heterozygous pathogenic variant in BRAF, KRAS, MAP2K1, MRAS, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2, SOS1, or SOS2 or either a heterozygous variant or biallelic pathogenic variants in LZTR1 identified by molecular genetic testing. Several additional genes associated with a Noonan syndrome-like phenotype in fewer than ten individuals have been identified. Treatment of manifestations: Cardiovascular anomalies in NS are usually treated as in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding is guided by knowledge of the specific factor deficiency or platelet aggregation anomaly. Growth hormone (GH) treatment increases growth velocity. Standard treatment for juvenile myelomonocytic leukemia (JMML) and other malignancies, feeding difficulties, ADHD, behavioral problems, cryptorchidism in males, renal anomalies / hydronephrosis, strabismus, hearing loss, and Chiari malformation. Surveillance: At each visit: measurement of growth parameters; evaluation of nutritional status in infants and toddlers; monitor for evidence of new neurologic manifestations (chronic headache, neck pain, changes in tone, dizziness, or obstructive sleep apnea); monitor developmental progress; assessment of behavioral issues, as age appropriate; skin examination. Annually in childhood or as clinically indicated: ophthalmology and audiology evaluations. In children age <5 years: if initial cardiac evaluation is normal, at least annual cardiac evaluations until age 5 years. In children age >5 years through adulthood, cardiac evaluation at least every 5 years, or as clinically indicated. Prior to any surgical procedure or in those with clinical bleeding: assessment of bleeding history, CBC with differential, and consideration of measurement of coagulation factors. For those with pathogenic PTPN11 or KRAS variants: consider physical examination with assessment of spleen size & CBC every 3-6 months until age 5 years to assess for concerns about JMML/malignancy. Agents/circumstances to avoid: Aspirin therapy should be avoided because it may exacerbate a bleeding diathesis. Pregnancy management: Consider referral to an adult congenital heart program for peripartum evaluation and management; consider a hematology referral if the affected pregnant woman has a history of bleeding abnormalities and/or has not undergone previous screening for coagulopathy. NS is most often inherited in an autosomal dominant manner. While many individuals with autosomal dominant NS have a de novo pathogenic variant, an affected parent is recognized in 30%-75% of families. The risk to sibs of a proband with autosomal dominant NS depends on the genetic status of the parents: if a parent is affected, the risk is 50%; when the parents are clinically unaffected, the risk to the sibs of a proband appears to be low (<1%). Each child of an individual with autosomal dominant NS has a 50% chance of inheriting the pathogenic variant. NS caused by pathogenic variants in LZTR1 can be inherited in either an autosomal dominant or an autosomal recessive manner. The parents of an individual with autosomal recessive NS are typically heterozygotes (i.e., have one LZTR1 pathogenic variant), and may either be asymptomatic or have mild features of NS. If both parents are heterozygous for one LZTR1 pathogenic variant, each sib of an affected individual has at conception a 25% chance of being affected, a 50% chance of having one LZTR1 pathogenic variant (which can be associated with mild NS features), and a 25% chance of being unaffected and not a carrier. Prenatal testing and preimplantation genetic testing are possible if the NS-related pathogenic variant(s) have been identified in an affected family member.

#3

Focal Cortical Dysplasia Type IIa and SCN5A-associated Genetic Arrhythmia: A Case Report.

Neuropediatrics2026 Feb

We report the clinical course of a 13-year-old male patient with a history of focal structural epilepsy starting at the age of 18 months due to focal cortical dysplasia (FCD) IIa and undetected genetic arrhythmia syndrome due to a pathogenic variant in sodium voltage-gated channel alpha subunit 5 (SCN5A) gene at that time.High-resolution MRI detected FCD in the left suprabasal margin matching the EEG focus. At the age of 12 years, epileptological-surgical evaluation led to lesionectomy, which resulted in seizure freedom postoperatively. Months later, the patient experienced an episode of leg pain, increased tone of the upper body, and subsequent cardiac arrest. Resuscitation efforts were successful, leading to survival with hypoxic brain injury. Unexpected cardiac arrest not in line with the previous seizure semiology led to further cardiological examinations including electrophysiology and genetic testing, revealing a pathogenic SCN5A variant associated with arrhythmia syndromes. A two-chamber implantable cardioverter defibrillator (ICD) was implanted. To our knowledge, this combination of diseases has not been reported yet, a causal relationship stays speculatively. Nevertheless, it highlights the complexity of coexisting structural and genetic conditions that can only be detected in alertness to uncommon conditions and via an interdisciplinary approach.

#4

Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.

Archivos espanoles de urologia2026 Jan

Prune belly syndrome (PBS) is a rare congenital disorder defined by deficient abdominal musculature, urinary tract anomalies and cryptorchidism. Clinical presentation is variable, and extrarenal malformations are common. A retrospective descriptive study of seven patients diagnosed with PBS between 1990 and 2024 in a tertiary-care hospital was carried out. Clinical, biochemical, radiological, auxological and surgical data were reviewed. All patients had megacystis and abdominal muscle hypoplasia. Megalourethra was observed in three (43%), cryptorchidism in six (86%), hydronephrosis in all cases and renal dysplasia in four (57%). Extrarenal anomalies included congenital heart disease in three patients (43%), musculoskeletal defects in three (43%) and other malformations in two (28%). Mean serum creatinine level was 0.83 mg/dL at birth and 1.30 mg/dL at the last follow-up. Two patients (28%) required clean intermittent catheterisation, and one (14%) underwent renal transplantation at 14 years. Surgical procedures included orchidopexy in five patients (71%), vesicostomy in four (57%) and Mitrofanoff appendicovesicostomy in one patient. PBS is a rare disorder with a heterogeneous clinical spectrum. This cohort revealed a high prevalence of cardiac anomalies. Renal dysplasia, recurrent urinary tract infections and delayed surgical intervention were associated with progressive renal impairment. Management in centres with multidisciplinary teams is essential.

#5

Diffuse Extra-Thoracic Vascular Disease in Nonsyndromic Thoracic Aortic Aneurysm and Dissection.

The American journal of cardiology2026 Feb 26

Patients with nonsyndromic thoracic aortic aneurysm and dissection (nsTAAD) may have systemic arterial involvement, but the distribution and clinical correlates of extrathoracic disease remain poorly defined. We conducted a retrospective cohort study of adults with nsTAAD at Mayo Clinic (2018-2024). Trained reviewers manually confirmed thoracic aortic dilation and all extrathoracic vascular lesions; syndromic, congenital, and fibromuscular dysplasia-related cases were excluded. Cross-sectional imaging availability was abstracted for the head or neck, chest, and abdomen or pelvis. Detection frequencies of nonthoracic aneurysm (nTA-A) were calculated among patients imaged in ≥1 extrathoracic territory, while nonaortic dissection (nTA-D) frequencies used the full cohort denominator. Group differences were assessed using Chi-square or t Tests, and logistic regression identified predictors of nTA-A. Among 3,989 patients (28.6% female), 82.0% had CT or MRI of ≥1 extrathoracic territory. nTA-A was detected in 443/3,270 (13.5%) and increased with age (7.4% at 18-30 years, 8.4% at 31 to 50 years, 18.3% at ≥51 years; p <0.001), with the greatest detection burden in the abdomen or pelvis followed by the head/neck. nTA-D occurred in 136/3,989 (3.4%) and also rose with age (0.7%, 2.2%, 4.9%; p <0.001). Hypertension and hyperlipidemia were independently associated with nTA-A (p ≤0.05). Patients with nTA-A or nTA-D had higher rates of heart failure, myocardial infarction, stroke, and mortality (all p ≤0.01). In conclusion, extrathoracic aneurysms and dissections are common in nsTAAD and increase with age, supporting careful clinical assessment with vigilant symptom monitoring and risk factor optimization, and providing a foundation for future studies to determine when broader vascular evaluation improves longitudinal risk stratification and outcomes. Oculo-auriculo-vertebral spectrum (OAVS) is a congenital disorder of craniofacial morphogenesis, first described by ophthalmologist Maurice Goldenhar in 1952, characterized by an association of ophthalmic, auricular, and facial features. Gorlin et al. subsequently added vertebral anomalies to the classification in 1963. The condition is also known as Goldenhar syndrome, facio-auriculo-vertebral syndrome, or Goldenhar-Gorlin syndrome. The term OAVS, originating from "oculoauriculovertebral dysplasia" as described by Cohen et al in 1989, reflects the phenotypic continuum and significant overlap among malformations of structures derived from the first and second branchial arches. OAVS affects the eyes, mouth (lips, tongue, and palate), ears, maxilla, and mandible. Multisystem involvement frequently includes the central nervous system, heart, kidneys, and skeletal system, distinguishing it from isolated hemifacial microsomia. Recent advances in genetics have identified multiple causative genes, transforming our understanding of this clinically heterogeneous condition. Typical phenotypes include microtia, facial asymmetry, and epibulbar dermoid or lipodermoid. The minimum diagnostic criteria proposed by Tasse et al include either isolated microtia or preauricular tags associated with hemifacial microsomia. The management of patients with OAVS requires an interprofessional approach due to the wide variety of abnormalities and varying severity of presentations. This review highlights current understanding of etiology, pathogenesis, clinical presentations, and evidence-based management options, with particular emphasis on ocular features.

Publicações recentes

PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.

Eur J Med Genet2024 Jun

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.

J Med Genet2024 Apr 19

Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene.

Ital J Pediatr2022 May 4

Further delineation of a recognizable type of syndromic short stature caused by biallelic SEMA3A loss-of-function variants.

Am J Med Genet A2021 Mar

Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in protein kinase D1.

J Med Genet2021 Jun

Ver todas no PubMed

📚 EuropePMCmostrando 200

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Clinical phenotype and genetic analysis of a child with CAKUTHED syndrome due to variant of PBX1 gene].

Archivos espanoles de urologia

Clinical Presentation and Long-Term Outcomes of Prune Belly Syndrome in a Tertiary Hospital.

The American journal of cardiology

Diffuse Extra-Thoracic Vascular Disease in Nonsyndromic Thoracic Aortic Aneurysm and Dissection.

Scandinavian journal of immunology

Combined Immunodeficiency Associated With MAP2K1 p.Tyr130His Variant in Cardiofaciocutaneous Syndrome: A Case Report With Literature-Based Phenotypic Comparison.

International journal of molecular sciences

Adams-Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations.

The American journal of case reports

Aplasia Cutis Congenita and Congenital Heart Disease: A Case Report, Highlighting the Limitation of Antenatal Screening.

Journal francais d'ophtalmologie

[National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician].

Noncirrhotic Portopulmonary Hypertension Due to Hepatoportal Sclerosis in Adams-Oliver Syndrome.

Pediatrics

Dandy-Walker syndrome linked to amelia, genu recurvatum, haemangioma, complex congenital heart defects, schizencephaly, and dyslipidaemia: a case report.

BMC pediatrics

Generation of three induced pluripotent stem cell clones from a functional single ventricle patient carrying the BRAF c.1897 T > C variant.

Stem cell research

European heart journal. Case reports

Intracardiac myxoma of unusual topography and rare clinical presentation in the context of congenital polymalformative syndrome: a case report.

Changing the Underlying Causes of Recurrent Pneumonia In Children: A Systematic Review.

Pediatric pulmonology

Diastolic function in newborn infants: understanding pathophysiology, diagnosis and clinical relevance.

Pediatric research

Focal Cortical Dysplasia Type IIa and SCN5A-associated Genetic Arrhythmia: A Case Report.

Neuropediatrics

Langerhans Cell Histiocytosis in Cardiofaciocutaneous Syndrome.

Journal of cerebrovascular and endovascular neurosurgery

A case of hypoplasia of internal carotid artery and intracranial vasculopathy with Moyamoya syndrome in association with Alagille syndrome.

Journal of human genetics

Tetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant.

Journal of family medicine and primary care

Navigating complexities: A pediatric case of Ellis-van Creveld syndrome.

Acta paediatrica (Oslo, Norway : 1992)

Chronic Lung Disease-Related Pulmonary Hypertension in Children.

Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine

Prenatal Diagnosis of Fetal Heart Malformation With Abnormal Number of Pulmonary Artery Branches as the Initial Clue.

Epidemiological and clinical features of neonatal parainfluenza virus infection: a retrospective study.

Translational pediatrics

Intractable & rare diseases research

Identification of a novel de novo AFF4 variant (c.778A>G) associated with CHOPS syndrome.

International journal of general medicine

Classification of Fetal Congenital Heart Disease by Prenatal Ultrasound and Its Diagnostic Value.

Circulation. Cardiovascular interventions

Technical Advances and Outcomes of Fetal Atrial Septal Intervention for Restrictive or Intact Atrial Septum.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Analysis of a neonate with Hypoparathyroidism-sensorineural deafness-renal dysplasia syndrome and a literature review].

Cardio-facial-cutaneous syndrome mitral valve prolapse: a rare association.

Cardiology in the young

Case Report: A novel compound heterozygosity of the EVC2 gene identified in a Chinese pedigree with congenital heart defect.

Frontiers in pediatrics

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

[Cardiofaciocutaneous syndrome caused by microdeletion of chromosome 19p13.3: a case report and literature review].

Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

Frontiers in immunology

The American Journal of dermatopathology

Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Genetic analysis for a pedigree with Structural heart defects and renal anomalies syndrome caused by variants of TMEM260 gene].

Mortality Associated With Viral Bronchiolitis in a Pediatric Department: A Retrospective Analysis.

Cureus

Invasive Ventilation Strategies in Neonates.

Indian pediatrics

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

Journal of intellectual disability research : JIDR

Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome.

Journal of clinical laboratory analysis

Prenatal Diagnosis and Clinical Phenotypic Heterogeneity of 22q11.2 Microdeletion Syndrome Based on a Single Center Retrospective Study.

Quantitative T1 Mapping Indicates Elevated White Matter Myelin in Children With RASopathies.

Biological psychiatry

Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese

NAXCARE: a clinical outcome registry for Naxos disease and related cardiocutaneous syndromes.

The Timing and Factor of Ductus Arteriosus Closure in Infants with Down Syndrome Born at Term and Late-Preterm.

Pediatric cardiology

Genetics in medicine : official journal of the American College of Medical Genetics

A literature review and pooled case analysis of cardiofaciocutaneous syndrome to estimate cancer risk.

Journal of the American Heart Association

Spontaneous Coronary Artery Dissection and a Family History of Aortic Dissection: A Genetic Association Study.

Current cardiology reviews

RASopathies and Cardiac Complications: Insights into Mechanisms, Diagnosis, and Innovative Treatments.

Airway Anomalies Predict Risk of Pediatric Pulmonary Hypertension.

Pediatric pulmonology

The Australian-New Zealand spontaneous coronary artery dissection cohort study: predictors of major adverse cardiovascular events and recurrence.

European heart journal

Zhonghua er ke za zhi = Chinese journal of pediatrics

[Analysis of 15 cases of ductus arteriosus stent placement without a guiding catheter through femoral artery approach].

The Journal of clinical investigation

Aberrant ERK signaling in astrocytes impairs learning and memory in RASopathy-associated BRAF mutant mouse models.

Granulomatous Variant of Giant Centrifugal Miliaria Profunda in an 8-Month-Old Boy: Expanding the Dermatologic Phenotype of Cardiofaciocutaneous Syndrome.

Pediatric dermatology

A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia.

Ophthalmic genetics

Q241R mutation of Braf causes neurological abnormalities in a mouse model of cardio-facio-cutaneous syndrome, independent of developmental malformations.

Human molecular genetics

European journal of pediatrics

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.

An Extended Phenotype of PPP1R13L Cardiocutaneous Syndrome.

Recurrent Increased Nuchal Translucency Led to the Identification of Novel NUP107 Variants.

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.

Genes & genomics

Journal of veterinary internal medicine

Familial osteochondrodysplastic and cardiomyopathic syndrome in Chianina cattle.

Journal of clinical medicine

Validation of a Paralimbic-Related Subcortical Brain Dysmaturation MRI Score in Infants with Congenital Heart Disease.

Myocardial infarction in a 17-year-old patient diagnosed with MPOD II syndrome.

Cardiology in the young

Identification of a Novel Frameshift variant of the ATRX gene: a Case Report and Review of the genotype-phenotype relationship.

BMC pediatrics

Acta dermato-venereologica

Cardio-facio-cutaneous Syndrome with Severe Inflammatory Cutaneous Lesions: Dramatic Effect of Dupilumab.

Analysis of the causes of neonatal death and genetic variations in congenital anomalies: a multi-center study.

Frontiers in pediatrics

International journal of molecular sciences

Biomarker Landscape in RASopathies.

Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.

A nationwide survey of Vici syndrome in Japan.

Brain & development

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

PTPN11 and FLNA variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases

Risk factors for respiratory syncytial virus-associated acute lower respiratory infection in children under 5 years: An updated systematic review and meta-analysis.

Life (Basel, Switzerland)

Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib.

Dermoscopic Features of Melanocytic Nevi in Cardiofaciocutaneous and Costello Syndromes.

JAMA dermatology

BMC pregnancy and childbirth

Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultrasound: a case report and literature review.

Zhonghua fu chan ke za zhi

[Adolescent female reproductive system dysplasia: a clinical study of 356 cases].

European journal of human genetics : EJHG

Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.

American journal of medical genetics. Part C, Seminars in medical genetics

Simpson-Golabi-Behmel syndrome.

Texas Heart Institute journal

Spontaneous Coronary Artery Dissection in a Male Patient With Fibromuscular Dysplasia.

BMC cardiovascular disorders

Spontaneous coronary artery dissection in patients with prior psychophysical stress: a systematic review of case reports and case series.

European journal of medical genetics

PRKD1-related telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: Case report and review of the literature.

Macular hypoplasia and high myopia in 48, xxyy syndrome: a unique case of 48, xxyy syndrome that presents with high myopia and macular dysplasia.

BMC ophthalmology

Radiographics : a review publication of the Radiological Society of North America, Inc

RASopathies for Radiologists.

Journal of the European Academy of Dermatology and Venereology : JEADV

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.

Current problems in cardiology

Spontaneous coronary artery dissection: A review of medical management approaches.

Diagnostics (Basel, Switzerland)

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.

Italian journal of pediatrics

An epidemiological investigation of high-risk infants for Respiratory Syncytial Virus infections: a retrospective cohort study.

Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant.

Heliyon

Weyers Acrofacial Dysostosis: A Case Report.

Cureus

JPMA. The Journal of the Pakistan Medical Association

Ellis-van Creveld syndrome: a case report.

Effect of deletion of the protein kinase PRKD1 on development of the mouse embryonic heart.

Journal of anatomy

Global disease burden of and risk factors for acute lower respiratory infections caused by respiratory syncytial virus in preterm infants and young children in 2019: a systematic review and meta-analysis of aggregated and individual participant data.

Lancet (London, England)

Journal of medical genetics

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.

The Journal of emergency medicine

The Heart Has its Reasons Which Reason Knows Not: A Curious Case of Chest Pain.

Heated and humidified high flow therapy (HHHFT) in extreme and very preterm neonates with respiratory distress syndrome (RDS): a retrospective cohort from a tertiary care setting in Pakistan.

BMJ paediatrics open

BMC pregnancy and childbirth

Intrauterine ultrasound phenotyping, molecular characteristics, and postnatal follow-up of fetuses with the 15q11.2 BP1-BP2 microdeletion syndrome: a single-center, retrospective clinical study.

BMC cardiovascular disorders

Left main and three vessels spontaneous coronary artery dissection as an incidental finding in young man with history of Hodgkin's lymphoma-a case report.

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.

Genes

TBX5 pathogenic variant in a patient with congenital heart defect and tracheal stenosis.

Congenital anomalies

Regional and temporal variations of spontaneous coronary artery dissection care according to consensus recommendations: a systematic review and meta-analysis.

Open heart

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

Frontiers in endocrinology

Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes.

Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.

Epilepsia open

Medicina (Kaunas, Lithuania)

Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report.

A Small De Novo CNV Deletion of the Paternal Copy of FOXF1, Leaving lncRNA FENDRR Intact, Provides Insight into Their Bidirectional Promoter Region.

Non-coding RNA

Atrial septal defect closure is associated with improved clinical status in patients ≤ 10 kg with bronchopulmonary dysplasia.

Pulmonary circulation

Epilepsy in cardiofaciocutaneous syndrome: Clinical burden and response to anti-seizure medication.

Journal of Korean medical science

Major Congenital Anomalies in Korean Livebirths in 2013-2014: Based on the National Health Insurance Database.

Current challenges in treatment and management of spontaneous coronary artery dissection.

Hospital practice (1995)

Treatment of Refractory Epilepsy With MEK Inhibitor in Patients With RASopathy.

Pediatric neurology

Identification of the first homozygous intragenic deletion in the YY1AP1 gene in a consanguineous family: New insights into the phenotypic variability associated with Grange syndrome.

Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation.

Orphanet journal of rare diseases

Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients.

Clinical immunology (Orlando, Fla.)

Who's your data? Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry.

Underdiagnosed Roifman syndrome manifested as non-ischaemic cardiomyopathy: a case report.

ESC heart failure

Prenatal diagnosis and early childhood outcome of fetuses with extremely large nuchal translucency.

Molecular cytogenetics

Molecular genetics & genomic medicine

Clinical heterogeneity of polish patients with KAT6B-related disorder.

Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study.

BMC medical genomics

Hormone research in paediatrics

SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.

Proceedings of the National Academy of Sciences of the United States of America

Evolutionary history of MEK1 illuminates the nature of deleterious mutations.

The "FEEDS (FEeding Eating Deglutition Skills)" over Time Study in Cardiofaciocutaneous Syndrome.

Genes

Children (Basel, Switzerland)

A Case of Sotos Syndrome in a Preterm Infant with Severe Bronchopulmonary Dysplasia and Congenital Heart Disease.

Annals of cardiac anaesthesia

Ellis van creveld syndrome: Cardiac anomalies and anesthetic implications.

The American journal of cardiology

Derivation and Validation of Spontaneous Coronary Artery Dissection Prediction Score in Patients With Myocardial Infarction.

Fibromuscular dysplasia of the brachial artery in patients with spontaneous coronary artery dissection: a case series and literature review.

Heart and vessels

A rare case of isolated right atrial enlargement and TBX5 mutation associated with Holt-Oram syndrome.

Prenatal diagnosis

Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7.

Prenatal diagnosis

Cervicothoracic dislocation due to congenital and bone-dysplasia-related vertebral malformations.

Spine deformity

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry

Peripheral odontogenic fibroma in a child with Ellis-van Creveld syndrome: Case report.

A novel gene mutation for multicentric osteolysis nodulosis and arthropathy: Case report and review of literature.

Heliyon

Evolution in the management of aorta to left ventricular tunnel in a national congenital cardiology centre.

Cardiology in the young

Case report: Novel TBX5-related pathogenic mechanism of Holt-Oram syndrome.

Frontiers in genetics

JPMA. The Journal of the Pakistan Medical Association

Ellis-van Creveld syndrome in a neonate: a case report.

Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese

Cardiomyopathies in children: An overview.

NOTCH1 loss of the TAD and PEST domain: An antimorph?

Italian journal of pediatrics

UPDATE - 2022 Italian guidelines on the management of bronchiolitis in infants.

Zhonghua xin xue guan bing za zhi

[Analysis on echocardiographic data of fetal heart defects at high altitude in Yunnan province and surrounding high altitude areas].

Impaired cell-cell communication and axon guidance because of pulmonary hypoperfusion during postnatal alveolar development.

Respiratory research

Spontaneous haemopericardium due to vitamin K deficiency in an adult patient with cardiofaciocutaneous syndrome.

BMJ case reports

Spontaneous coronary artery dissection: an uncommon primary presenting feature of fibromuscular dysplasia.

BMJ case reports

American journal of medical genetics. Part C, Seminars in medical genetics

Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.

Fetal diagnosis and therapy

Bruck Syndrome: Beyond the Obvious.

Archivos argentinos de pediatria

Wildervanck syndrome: clinical case report.

American journal of medical genetics. Part C, Seminars in medical genetics

The heart in RASopathies.

European journal of medical genetics

Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMR.

Whole exome sequencing based identification of a case of cardiofaciocutaneous syndrome type 3: the benefits of new sequencing technology in children with neurodevelopmental delay.

BMJ case reports

A severe clinicopathologic phenotype of RAF1 Ser257Leu neomutation in a preterm infant without cardiac anomaly.

An infant with congenital heart defects and proteinuria: a case report.

BMC pediatrics

Obstetrical and neonatal outcomes of cardio-facio-cutaneous syndrome: Prenatal consequences of Ras/MAPK dysregulation.

Journal of the European Academy of Dermatology and Venereology : JEADV

Epidemiology of aplasia cutis congenita: A population-based study in Europe.

Expanding the phenotype of Bruck syndrome: Severe limb deformity, arthrogryposis, congenital cardiac disease and pulmonary hemorrhage.

BCOR variants are associated with X-linked recessive partial epilepsy.

Epilepsy research

Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.

JACC. Cardiovascular interventions

Differences in Demographics and Outcomes Between Men and Women With Spontaneous Coronary Artery Dissection.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

[Clinical analysis of a child with cardio-facio-cutaneous syndrome due to a de novo variant of MAP2K1 gene].

Journal of medical case reports

Cushing syndrome as a failed cardiac screen in a patient with McCune-Albright syndrome: a case report.

Cancer-causing MAP2K1 mutation in a mosaic patient with cardio-facio-cutaneous syndrome and immunodeficiency.

Human mutation

BJOG : an international journal of obstetrics and gynaecology

Detection rates of a national fetal anomaly screening programme: A national cohort study.

Seminars in fetal & neonatal medicine

Long term outcome of babies with pulmonary hypertension.

Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio-facio-cutaneous syndrome.

Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literature.

Molecular genetics & genomic medicine

Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene.

Cardiovascular Abnormalities and Gene Mutations in Children With Noonan Syndrome.

Frontiers in genetics

Early-Age Manifestation of Singleton Merten Syndrome With Systemic Lupus Erythematosus Features: A Case Report.

Cureus

The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.

Human mutation

Repair of double orifice mitral valve with an atrioventricular septal defect in a girl with Ellis-Van Creveld syndrome.

Clinical case reports

Novel large deletion involving EVC and EVC2 in Ellis-van Creveld syndrome.

Human genome variation

Expanding the novel MAPKAPK5-related developmental disorder's genotype-phenotype correlation: Patient report and 19 months of follow-up.

Clinical genetics

Genetics in medicine : official journal of the American College of Medical Genetics

Neurologic and neurodevelopmental complications in cardiofaciocutaneous syndrome are associated with genotype: A multinational cohort study.

Italian journal of pediatrics

Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene.

European journal of obstetrics, gynecology, and reproductive biology

Congenital extrahepatic portosystemic shunt: An unusual feature in cardio-facio-cutaneous syndrome.

Clinical and experimental dermatology

Keratosis follicularis spinulosa decalvans-like cicatricial alopecia in a patient with cardiofaciocutaneous syndrome.

NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.

European journal of medical genetics

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome.

Archivos argentinos de pediatria

A multicenter study of confirmed COVID-19 cases: preliminary data on 2690 pediatric patients in Argentina during the first year of the pandemic.

Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature.

BMC neurology

Progress in pediatric cardiology

First case reported of COVID-19 infection in an adult patient with Ellis-van Creveld Syndrome.

Cardiovascular drugs and therapy

An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.

Severe phenotypes of B3GAT3-related disorder caused by two heterozygous variants: a case report and literature review.

BMC medical genomics

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus

Eyelid nystagmus in a child with cardiofaciocutaneous syndrome associated with BRAF mutation.

Indian journal of dermatology, venereology and leprology

RASopathies: Dermatologists' viewpoints.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie

Cardiofaciocutaneous syndrome - a longitudinal study of a case over 33 years: case report and review of the literature.

Vasodilator therapy for pulmonary hypertension in children: a national study of patient characteristics and current treatment strategies.

Pulmonary circulation

Journal of medical genetics

Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts.

Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome.

A novel missense mutation of FOXC1 in an Axenfeld-Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review.

BMC medical genomics

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences

Clinical features, genetic detection and therapeutic response to rhGH of children with Noonan syndrome: an analysis of 12 cases.

Journal of cardiac surgery

Long-term durability of a Perceval aortic valve implanted inside a calcified homograft root in a patient with Klippel-Trenaunay-Weber syndrome.

Genotype-cardiac phenotype correlations in a large single-center cohort of patients affected by RASopathies: Clinical implications and literature review.

American journal of perinatology

Rectal Acetaminophen Improves Shunt Volume and Reduces Patent Ductus Arteriosus Ligation in Extremely Preterm Infants.

Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.

Genes

Revista espanola de cardiologia (English ed.)

Rationale and design of the BA-SCAD (Beta-blockers and Antiplatelet agents in patients with Spontaneous Coronary Artery Dissection) randomized clinical trial.

Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.

Frontiers in genetics

European journal of pediatrics

Risk factors for hospitalisation due to respiratory syncytial virus infection in children receiving prophylactic palivizumab.

International journal of surgery case reports

First case report of spontaneous perinatal gastric perforation in premature neonate with potter sequence and syndrome.

Health and quality of life outcomes

Health-related quality of life and physical activity in children with inherited cardiac arrhythmia or inherited cardiomyopathy: the prospective multicentre controlled QUALIMYORYTHM study rationale, design and methods.

Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency.

Respiratory research

Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case-control study by quantitative magnetic resonance imaging.

Neuroradiology

Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.

A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.

The European respiratory journal

Characterisation of paediatric pulmonary hypertensive vascular disease from the PPHNet Registry.

Novel interstitial 2q12.3q13 microdeletion predisposes to developmental delay and behavioral problems.

Neurogenetics

Nanoparticle Delivery of STAT3 Alleviates Pulmonary Hypertension in a Mouse Model of Alveolar Capillary Dysplasia.

Circulation

Vascular histopathology and connective tissue ultrastructure in spontaneous coronary artery dissection: pathophysiological and clinical implications.

Cardiovascular research

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences

Cardio-facio-cutaneous syndrome with BRAF gene mutation: A case report and literature review.

Stem cells and development

Murine Model of Cardiac Defects Observed in Adams-Oliver Syndrome Driven by Delta-Like Ligand-4 Haploinsufficiency.