Results 181 to 190 of about 1,790,196 (391)

Congenital Mitral Stenosis [PDF]

, 1951
J. L. Emery, R. S. Illingworth
openalex   +1 more source

Quality of Life of Families Who Have Children With Cornelia de Lange Syndrome in Brazil: Opportunities for Improvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This exploratory cross‐sectional study aimed to estimate the family quality of life (FQoL) among 70 Brazilian families with children with Cornelia de Lange syndrome (CdLS). Data were collected using sociodemographic and clinical data forms, the Barthel index for activities of daily living, and the Beach Center FQoL Scale, a 5‐point Likert tool
Aline Apis, Beatriz Carvalho Nunes, Thainá Vilella, Rafaela Catelan Martins Pereira, Rui Fernando Pilotto, Lucimar Retto da Silva de Avó, Maria Isabel Melaragno, Carla Maria Ramos Germano, Débora Gusmão Melo   +8 more
wiley   +1 more source

Prevalence and characteristics of oral and dental anomalies in Tunisian individuals with Down syndrome: a descriptive study

Egyptian Journal of Medical Human Genetics
Backgrounds Trisomy 21 is the most common chromosomal abnormality and is clinically characterized by variable intellectual disability, typical facial dysmorphism, polymalformative syndrome, and oral and dental abnormalities, which are ten times more ...
Yasmine Boukhalfa, Lilia Kraoua, Faouzi Maazoul, Jihène Zaroui, Ridha M’rad   +4 more
doaj   +1 more source

Congenital Hypertrophic Pyloric Stenosis [PDF]

, 1948
A. A. H. Gailey
openalex   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Spontaneous Resolution of Hemolysis After Ventricular Septal Defect Closure With an Amplatzer Device

Clinical Case Reports
A wait and see approach can be maintained in cases with mechanical hemolysis after percutaneous VSD closure, even when the cause is not homogeneous.
Christophe Popelier, Pieter De Meester, Werner Budts   +2 more
doaj   +1 more source

THE AFTER-CARE OF CONGENITAL PYLORIC STENOSIS [PDF]

, 1931
D. Ian Paterson
openalex   +1 more source

Characterizing the Pattern of Anomalies in Congenital Zika Syndrome for Pediatric Clinicians

JAMA pediatrics, 2017
C. Moore, J. E. Staples, W. Dobyns, A. Pessoa, C. Ventura, E. Fonseca, E. Ribeiro, Liana O Ventura, Norberto Nogueira Neto, J. F. Arena, S. Rasmussen   +10 more
semanticscholar   +1 more source

Torsten Sjögren and Tage Larsson: Oligophrenia in combination with congenital ichthyosis and spastic disorders. Acta Psychiatrica et neurologica scandinavica. Supplementum 113, Volumen 32, Einar Munksgaard Ed. Copenhagen 1957. [PDF]

, 1957
Mario Cirielli
openalex   +1 more source

Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother [PDF]

, 2009
Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities ...
Kumar, Arvind, Taksande, AM, Vilhekar, KY   +2 more
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