Publications by authors named "Ogochukwu Jidechukwu Sokunbi"
Ventricular septal defect (VSD) is the most common congenital cardiac anomaly with a prevalence of 1.17 per 1000 live births. Haemodynamically significant VSDs require closure either surgical or transcatheter.
View Article and Find Full Text PDFTuberous sclerosis complex (TSC) is an autosomal dominant syndrome characterized by mostly benign tumors of the brain, skin, heart, kidney, and eye. Aberrations in the genes TSC1 and TSC2 which encode hamartin and tuberin, respectively, cause TSC. Because disease manifestations develop over time, early diagnosis and intervention are imperative for patients.
View Article and Find Full Text PDF22q11.2 deletion syndrome (22q11.2 DS) is the most common microdeletion syndrome and is underdiagnosed in diverse populations.
View Article and Find Full Text PDFDown syndrome in diverse populations.
Paul Kruszka Antonio R Porras Andrew K Sobering Felicia A Ikolo Samantha La Qua Ogochukwu Jidechukwu Sokunbi
Am J Med Genet A
January 2017
Article Synopsis
- Down syndrome, the most common cause of cognitive impairment, manifests with recognizable signs that vary across ethnic groups, as shown in a study involving 65 individuals from 13 countries, with an average age of 6.6 years.
- Key clinical features, such as brachycephaly and ear anomalies, occurred less frequently in African participants compared to others, highlighting ethnic differences (P-values indicated significant variances).
- Digital facial analysis technology proved highly effective in diagnosing Down syndrome across diverse populations, demonstrating high sensitivity (0.961), specificity (0.924), and accuracy (0.943), while specific facial features varied among ethnicities.