Results 71 to 80 of about 24,399 (268)

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, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Increased prevalence of potential right-to-left shunting in children with sickle cell anaemia and stroke [PDF]

, 2017
'Paradoxical' embolization via intracardiac or intrapulmonary right-to-left shunts (RLS) is an established cause of stroke. Hypercoagulable states and increased right heart pressure, which both occur in sickle cell anaemia (SCA), predispose to ...
Dlamini, N, Dowling, MM, Hynan, LS, Inusa, B, Iyer, R, Johnson, C, Kanter, J, Kirkham, F, Kwiatkowski, JL, Neumayr, L, Osunkwo, I, Owen, W, Panepinto, JA, PFAST Investigators, ., Plumb, PA, Quinn, CT, Ramaciotti, C, Rhodes, M, Sarnaik, S, Strouse, JJ   +19 more
core   +1 more source

Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes, Sanjana Karamcheti, Álvaro Martín Rodriguez, Anna‐Kaisa Niemi, Lynne M. Bird   +4 more
wiley   +1 more source

Aortopulmonary window: a rare congenital heart disease

Journal of the Belgian Society of Radiology, 2014
We report the case of a 3,5 month-old infant presented at cardiology consultation of our institution for investigation of a heart murmur associated with failure to thrive and respiratory distress.
TJ Costa, N Damry, C Jacquemart, C Christophe   +3 more
doaj   +1 more source

Primary stroke in a woman with sickle cell anemia responsive to hydroxyurea therapy. [PDF]

, 2014
The most common cause of stroke in children with sickle cell anemia is infarction due to ischemia. In adults, however, stroke is most commonly hemorrhagic in nature. Other causes of stroke in patients with sickle cell disease are very rare. In this short
Ballas, Samir K., Martinez-Outshoorn, Ubaldo E., Savage, Michael P   +2 more
core   +2 more sources

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, Hisateru Tachimori, Tomoki Kosho, Kanta Kishi, Noboru Motomura, Yasutaka Hirata   +5 more
wiley   +1 more source

The morphology, clinical significance and imaging methods of the atrial septal pouch: A critical review

Translational Research in Anatomy, 2018
The purpose of this study was to present current knowledge about the atrial septal pouch, which is a relatively new anatomical discovery located within the human interatrial septum of the heart.
Małgorzata Mazur, Katarzyna A. Jasinska, Jerzy A. Walocha   +2 more
doaj   +1 more source

Atrial Septal Defects [PDF]

, 2014
Atrial septal defects are the third most common type of congenital heart disease. Included in this group of malformations are several types of atrial communications that allow shunting of blood between the systemic and the pulmonary circulations.
Geva, T, Martins, JD, Wald, R
core   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

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, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source