Results 71 to 80 of about 77,061 (307)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff +8 more
wiley +1 more source
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
A rare association with patent ductus arteriosus
Annals of Pediatric Cardiology, 2012 Persistent fifth aortic arch (PFAA), also known as congenital double-lumen aortic arch, is a rare developmental anomaly of the aortic arch. A 5-month-old baby who presented with congestive cardiac failure was diagnosed to have a large patent ductus ...
Dhanya Warrier +3 more
doaj +1 more source
Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Despite the increasing number of retrospective cohorts describing successful cardiac surgery for children with trisomy 18, no consensus has been reached among healthcare providers regarding cardiac surgery in Japan. This study provided a benchmark to facilitate consensus building by assessing a nationwide surgical database in Japan. A total of
Shintaro Nemoto +5 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei +10 more
wiley +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote +9 more
wiley +1 more source
Evaluation of Aortic Arch Disorders in Patients with Tetralogy of Fallot
Armaghane Danesh Bimonthly Journal, 2021 Background & aim: Fallot tetralogy (TOF) is one of the most common diseases among congenital heart cyanotic abnormalities. 25% of these patients have a right aortic arch.
N Mehdizadegan +3 more
doaj
Medical Journal of Dr. D.Y. Patil University, 2015 We report a case of a 72-year-old female with a right aortic arch with mirror-image branching of arch vessels presenting with dysphagia, and characteristic images on barium esophagogram, contrast-enhanced computed tomography scan, and magnetic resonance ...
Guneet Singh +3 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava +5 more
wiley +1 more source