Results 131 to 140 of about 2,214,382 (367)

A Case Showing Multiple Congenital Abnormalities [PDF]

, 1933
A. J. Ballantyne
openalex   +1 more source

Ectopia cordis : a report of two cases in Cameroon [PDF]

, 2014
This article reports two cases of ectopia cordis in two children aged one day and twenty months respectively. A one day old newborn had complete thoracic ectopia cordis associated with an internal cardiac defect and severe thoracic and abdominal wall ...
Chelo, David, Koki Ndombo, Paul O., Mbassi Awa, Hubert Desire, Menanga, Alain P., Nde Kamgne, M., Ngo Um, Suzanne, Nguefack Dongmo, Felicitee   +6 more
core   +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

A CASE OF BILATERAL BUPHTHALMIA WITH MULTIPLE CONGENITAL ABNORMALITIES IN ONE EYE [PDF]

, 1930
G. G. Penman
openalex   +1 more source

TRANSVAGINAL ECHOCARDIOGRAPHY FOR THE PRENATAL DETECTION OF THE CONGENITAL HEART DISEASES

Педиатрическая фармакология, 2009
The ultrasonic study in the early pregnancy may successfully be used to perform the early prenatal detection of the congenital heart diseases in fetuses with the non cardiac abnormalities and sonographic markers of the chromosome pathology.Key words ...
E.A. Shevchenko
doaj   +2 more sources

Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia. [PDF]

Hum Genet, 2023
Zagnoli-Vieira G, Brazina J, Van Den Bogaert K, Huybrechts W, Molenaers G, Caldecott KW, Van Esch H.   +6 more
europepmc   +1 more source

AN ENORMOUS FÆCAL TUMOUR IN A GIRL WITH CONGENITAL ABNORMALITIES OF HER PELVIC VISCERA. [PDF]

, 1909
H. Butler, ArthurF. Hertz, W. Arbuthnot Lane   +2 more
openalex   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Congenital Malformation Prevalence in Cluj District between 2003-2007 [PDF]

Applied Medical Informatics, 2009
Introduction: Congenital anomalies represent a significant cause of premature birth, of child morbidity and mortality. From 200000 new born per year, over 10000 presented malformations. Epidemiologic studies have shown that the incidence of malformations
Ştefan I. ŢIGAN, Tudor MÎRZA, Rodica RADU, Anamaria MOLNAR   +3 more
doaj  

Improving the quality of life of parents of patients with congenital abnormalities using psychoeducational interventions: a systematic review. [PDF]

Qual Life Res, 2023
Rodrigues MG, Rodrigues JD, Soares MM, Azevedo LF, Rodrigues PP, Areias JC, Areias ME.   +6 more
europepmc   +1 more source