Results 61 to 70 of about 257,105 (351)

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Prenatal diagnosis and prevalence of critical congenital heart defects: an international retrospective cohort study

BMJ Open, 2019
Objectives To assess international trends and patterns of prenatal diagnosis of critical congenital heart defects (CCHDs) and their relation to total and live birth CCHD prevalence and mortality.
M. Bakker, J. Bergman, S. Krikov, E. Amar, G. Cocchi, J. Cragan, H. D. de Walle, M. Gatt, B. Groisman, Shiliang Liu, W. Nembhard, A. Pierini, A. Rissmann, Shanthi Chidambarathanu, Antonin Sipek Jr, E. Szabová, G. Tagliabue, D. Tucker, P. Mastroiacovo, L. Botto   +19 more
semanticscholar   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

Down syndrome: Prevalence and distribution of congenital heart disease in Brazil

São Paulo Medical Journal
CONTEXT AND OBJECTIVE: Down syndrome is the most common genetic disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of congenital heart disease. The objective of this study was to determine the
Beatriz Elizabeth Bagatin Veleda Bermudez, Sandra Lira Medeiros, Mariane Bagatin Bermudez, Iolanda Maria Novadzki, Neiva Isabel Rodrigues Magdalena   +4 more
doaj   +1 more source

SPECTRUM OF CONGENITAL HEART DISEASES IN BASRA: AN ECHOCARDIOGRPHY STUDY [PDF]

The Medical Journal of Basrah University, 2009
This is a retrospective study that was set out to describe the spectrum of congenital heart disease using echocardiography in two main centers in Basra over a period of 24 months from June (2006-2008).
Jawad Khadim, Sawsan Issa
doaj   +1 more source

Congenital heart defects in Williams syndrome [PDF]

The Turkish Journal of Pediatrics, 2017
Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenges.
openaire   +3 more sources

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

Palliative procedures for congenital heart defects

Archives of Cardiovascular Diseases, 2009
Although total repair of some congenital heart defects is possible in young children, palliative procedures still play an important role in relieving patients' symptoms, particularly in emergent settings, when total correction or surgical repair is not available.
Hua Jing, Shi-Min Yuan
openaire   +3 more sources

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Pattern of cognenital heart disease at Lady Reading Hospital, Peshawar

Gomal Journal of Medical Sciences, 2012
Background: Congenital heart disease is a defect in the structure of heart and great vessels present at birth. Early recognition will help to treat the child and if possible get corrective surgery done.
Inayatullah Khan, Amir Muhammad, Taj Muhammad   +2 more
doaj