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http://dx.doi.org/10.1002/ajmg.a.63973 | DOI Listing |
BMJ Case Rep
July 2025
Radiodiagnosis, Christian Medical College and Hospital Vellore, Vellore, India.
SummaryA female child was admitted to our centre with the chief complaints of recurrent cough and cold and breathing difficulties since day 20 of birth, bowing of both legs for the last 3 years, inability to gain weight for the last 2 years and easy fatigue. She had dysmorphic features characteristic of Melnick-Needles syndrome (MNS). Her mother also had similar phenotypic features.
View Article and Find Full Text PDFSci Rep
July 2025
Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, 250022, China.
Congenital heart disease (CHD) is the most common type of birth defects in humans. Genetic factors have been identified as an important contributor to the etiology of CHD. However, the underlying genetic causes in most individuals remain unclear.
View Article and Find Full Text PDFOrv Hetil
February 2025
1 Vas Vármegyei Markusovszky Egyetemi Oktatókórház, Csecsemő- és Gyermekgyógyászati Osztály Szombathely Magyarország.
In the case of a suspected genetic disease, it is a big challenge to integrate the wide range of symptoms, to select the appropriate diagnostic steps and then to evaluate the results. In this case report, we present the medical history of a boy with congenital heart defects, neurodevelopmental and endocrine disorders. In connection with recurrent, psychomotor developmental delay, detection of minor anomalies and recurrent, severe sepsis since his birth, we started his genetic testing.
View Article and Find Full Text PDFJ Med Genet
March 2025
Centres de référence Maladies Rares « Neurogénétique » et « Anomalies du développement », Medical Genetics Departement, CHU de Bordeaux, Bordeaux, France.
Background: loss of function manifests across a broad spectrum of phenotypes, ranging from severe prenatal onset to asymptomatic cases. Bilateral periventricular nodular heterotopia (BPNH) consistently occurs in affected individuals. This retrospective study involving French patients with BPNH evaluates the prevalence of gene dosage anomalies and investigates genotype-phenotype correlations in a large cohort of French patients with BPNH.
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