Results 121 to 130 of about 14,863 (260)
Expansion of the Phenotype of You‐Hoover‐Fong Syndrome and Possible Increased Risk of Cancer
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT You‐Hoover‐Fong syndrome (YHFS) is a rare autosomal recessive disorder characterized by global developmental delay, microcephaly, dysmorphic facial features, and a spectrum of neurodevelopmental abnormalities. YHFS is caused by pathogenic variants in TELO2, a gene involved in regulation of the cell cycle. To date, 29 individuals with YHFS have
Alessandro De Falco +6 more
wiley +1 more source
Multi-Center Study on Deep Learning-Assisted Detection and Classification of Fetal Central Nervous System Anomalies Using Ultrasound Imaging [PDF]
arXivPrenatal ultrasound evaluates fetal growth and detects congenital abnormalities during pregnancy, but the examination of ultrasound images by radiologists requires expertise and sophisticated equipment, which would otherwise fail to improve the rate of identifying specific types of fetal central nervous system (CNS) abnormalities and result in ...
arxiv
Prenatal Diagnosis of Proteus Syndrome: About a Case
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Proteus syndrome (PS) is a rare disorder (< 1/1000000), marked by progressive overgrowth commonly impacting the skeleton, skin, adipose tissue, and central nervous system. Clinical criteria were established in 2019. PS arises from a somatic activating variation in the AKT1 gene.
Luana Giovannangeli +10 more
wiley +1 more source
FetalFlex: Anatomy-Guided Diffusion Model for Flexible Control on Fetal Ultrasound Image Synthesis [PDF]
arXivFetal ultrasound (US) examinations require the acquisition of multiple planes, each providing unique diagnostic information to evaluate fetal development and screening for congenital anomalies. However, obtaining a comprehensive, multi-plane annotated fetal US dataset remains challenging, particularly for rare or complex anomalies owing to their low ...
arxiv
Nonrecurrent Triplication of 5q21.3q23.3: A Case Report and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Triplications involving 5q21.3q23.3 are rare, and a phenotype has not been established. Here, we present a 4‐month‐old male with dysmorphic facial features and congenital cardiac malformation. Chromosomal microarray identified a pathogenic triplication of 5q21.3q23.3 with chromosome analysis showing the extra 5q material inserted into 16q ...
Jacob A. Ginter +5 more
wiley +1 more source
Persistent Erythematous Telangiectatic Condition of Feet, Associated with a Congenital-Developmental Abnormality of Body-Build Allied to Arachnodactylia [PDF]
, 1933 Florian Weber
openalex +1 more source
HSDreport: Heart Sound Diagnosis with Echocardiography Reports [PDF]
arXivHeart sound auscultation holds significant importance in the diagnosis of congenital heart disease. However, existing methods for Heart Sound Diagnosis (HSD) tasks are predominantly limited to a few fixed categories, framing the HSD task as a rigid classification problem that does not fully align with medical practice and offers only limited ...
arxiv
Congenital Abnormality of Spine [PDF]
Proceedings of the Royal Society of Medicine, 1933 F. W. M. Pratt, Pearse Williams
openaire +3 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Aicardi–Goutières syndrome (AGS) is a rare monogenic type I interferonopathy. Janus kinase (JAK) inhibition has emerged as a potential treatment for AGS. RNU7‐1 is one of the most recently discovered genes for AGS, and the clinical effects of JAK inhibition in these patients have not been reported. Here, we describe the diagnosis and treatment
Timothy F. Spracklen +6 more
wiley +1 more source