A family with cardiac malformation, cleft lip-palate, short stature, microcephaly, distally placed thumbs, short 2nd and 5th fingers, long and broad 1st toes, broad distance between 1st and 2nd toes and mediodorsal curvature of the 4th toes with syndactyly of the 2nd and 3rd toes has been described as having a new syndrome. While some members of the family had full signs of the syndrome, others had similar but fewer and less severe anomalies of the same structures. The presence of common findings in three generations, its variable expressivity and pleiotropism, and the non-consanguineous history in the parents suggest that the inheritance is autosomal dominant.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1399-0004.1995.tb04102.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Mini Atrial Septal Defect Closure In Dextrocardia With Situs Inversus By Left Anterolateral Thoracotomy(Lalt) Approach - A Surgical Challenge.
Port J Card Thorac Vasc Surg
January 2025
Department of Cardiovascular & Thoracic Surgery, U. N. Mehta Institute of Cardiology and Research Center, Civil Hospital Campus, Asarwa, Ahmedabad, Gujarat, India.
Background: ASD is a relatively rare subset among patients with situs inversus dextrocardia with concordant AV connection and a minimally invasive approach in dextrocardia has yet to be standardized. The present case describes a case surgical closure of ostium secundum ASD by left mini-thoracotomy approach in patient with dextrocardia and situs inversus.
Case Presentation: The present case describes a 44-year female patient of ostium secundum ASD in dextrocardia with situs inversus.
Cachectic biomarkers as confounders behind the obesity paradox in patients with acute decompensated heart failure.
Int J Obes (Lond)
January 2025
Department of Cardiology, Sakakibara Heart Institute, Tokyo, Japan.
Background: Obesity is a risk factor for heart failure (HF) development but is associated with a lower incidence of mortality in HF patients. This obesity paradox may be confounded by unrecognized comorbidities, including cachexia.
Methods: A retrospective assessment was conducted using data from a prospectively recruiting multicenter registry, which included consecutive acute heart failure patients.
Clinical value of quantitative echocardiographic features in preterm infants with necrotizing enterocolitis.
Sci Rep
January 2025
Department of Neonatology, Children's Hospital of Soochow University, Suzhou, China.
This study investigated the correlation between quantitative echocardiographic characteristics within 3 days of birth and necrotizing enterocolitis (NEC) and its severity in preterm infants. A retrospective study was conducted on 168 preterm infants with a gestational age of < 34 weeks. Patients were categorized into NEC and non-NEC groups.
View Article and Find Full Text PDFGentisic acid protects Sprague-Dawley rats from myocardial infarction through reversing electrocardiographical, biochemical and histopathological abnormalities.
Biochem Biophys Res Commun
January 2025
Cardiovascular Research Group, Department of Pharmacy, COMSATS University Islamabad, Abbottabad Campus, University Road, Tobe Camp, Abbottabad, 22060, KPK, Pakistan. Electronic address:
Gentisic acid (GA), a cytochrome P450 metabolite of the antiplatelet drug aspirin, exhibits smooth muscle relaxant, antiatherogenic, and antioxidant activities. It also has a protective role in hypertrophic heart failure, suggesting its role in the management of myocardial infarction (MI). This study aimed to explore the protective activity of GA in isoproterenol (ISO)-induced MI in Sprague-Dawley (SD) rats in-vivo, followed by mechanistic investigation ex-vivo.
View Article and Find Full Text PDFCardiac Implications in Dravet Syndrome: Can Electrocardiogram and Echocardiography Detect Hidden Risks?
Pediatr Neurol
January 2025
Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain; Pediatrics Research Group, Institut de Recerca Sant Pau (IR-Sant Pau), Barcelona, Spain; Pediatric Neurology Unit, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Background: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy associated with loss-of-function variants in the SCN1A gene. Although predominantly expressed in the central nervous system, SCN1A is also expressed in the heart, suggesting a potential link between neuronal and cardiac channelopathies. Additionally, DS carries a high risk of sudden unexpected death in epilepsy (SUDEP).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!