We report on six new families (12 new patients) with the syndrome of microcephaly, facial and hand abnormalities, tracheoesophageal fistula, duodenal atresia, and developmental delay. The most common findings were hand abnormalities, microcephaly, short and/or narrow palpebral fissures, broad nasal bridge, anteverted nostrils, ear abnormalities, and micrognathia. Inheritance is autosomal dominant. There is a significant amount of intrafamilial variability especially as it relates to the gastrointestinal findings. Although the first patients reported, who were very young, did not exhibit any developmental delay, they subsequently did develop learning problems, and 87% of our 12 patients had mental retardation or learning difficulties.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Reimbursement policies of Swiss health insurances for the surgical treatment of symptomatic breast hypertrophy: a retrospective cohort study.
Swiss Med Wkly
January 2025
Department of Plastic, Reconstructive and Aesthetic Surgery, Ospedale Regionale di Lugano, Ente Ospedaliero Cantonale (EOC), Lugano, Switzerland.
Background: Patients with symptomatic breast hypertrophy typically suffer from chronic back pain, recurrent skin irritation at the inframammary fold and/or low self-esteem resulting in impaired quality of life. Reduction mammaplasty has been shown to effectively treat symptomatic breast hypertrophy with high patient satisfaction. Despite the obvious benefits, reimbursement requests for reduction mammaplasty are initially often refused by the patient's health insurance company, thereby frequently resulting in additional examinations and eventually extra expenses.
View Article and Find Full Text PDFAdapting a style based generative adversarial network to create images depicting cleft lip deformity.
Sci Rep
January 2025
Division of Plastic, Craniofacial and Hand Surgery, Sidra Medicine, and Weill Cornell Medical College, C1-121, Al Gharrafa St, Ar Rayyan, Doha, Qatar.
Training a machine learning system to evaluate any type of facial deformity is impeded by the scarcity of large datasets of high-quality, ethics board-approved patient images. We have built a deep learning-based cleft lip generator called CleftGAN designed to produce an almost unlimited number of high-fidelity facsimiles of cleft lip facial images with wide variation. A transfer learning protocol testing different versions of StyleGAN as the base model was undertaken.
View Article and Find Full Text PDFMusculoskeletal model predictions sensitivity to upper body mass scaling during gait.
Comput Biol Med
January 2025
Khalifa University, Abu Dhabi, United Arab Emirates. Electronic address:
Musculoskeletal modeling based on inverse dynamics provides a cost-effective non-invasive means for calculating intersegmental joint reaction forces and moments, solely relying on kinematic data, easily obtained from smart wearables. On the other hand, the accuracy and precision of such models strongly hinge upon the selected scaling methodology tailored to subject-specific data. This study investigates the impact of upper body mass distribution on internal and external kinetics computed using a comprehensive musculoskeletal model during level walking in both normal weight and obese individuals.
View Article and Find Full Text PDFAmenorrhea is a common symptom of a whole range of nosologies among women of reproductive age, which can accompany any endocrinopathy in the stage of decompensation. In all the diversity of various links in the pathogenesis of reproductive disorders, the problem of immunopathology remains a little aside, however, the significance of these disorders is underestimated. This publication provides an overview of immune system abnormalities in a women with amenorrhea.
View Article and Find Full Text PDFTrends in Rheumatoid Hand Surgery: Indications, Techniques, and Outcomes.
J Clin Med
January 2025
Department of Orthopaedic Surgery, School of Medicine, International University of Health and Welfare (IUHW), Narita Hospital, 852 Hatakeda, Narita 286-8520, Japan.
Rheumatoid arthritis (RA) causes persistent synovitis and arthritis, resulting in joint deformity and destruction throughout the body. As RA medications have evolved over the past 30 years, the surgical indications and techniques for RA joint deformities have changed. The aim of this review article is to summarize the recent trend of surgery for rheumatoid hand/finger deformities in previous reports and to present our recent surgical methods and outcomes for these deformities.
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!