Hajdu‐Cheney syndrome with atypical cardiovascular abnormalities. Issue 1 (27th October 2022)

• Record Type: Journal Article
• Authors: Ekure, Ekanem N.; Sokunbi, Ogochukwu; Kruszka, Paul; Muenke, Maximilian; Adeyemo, Adebowale A.
• Is Part Of: American journal of medical genetics. Volume 191:Issue 1(2023)
• Page Start: 271
• Page End: 274
• Publication Date: 2022-10-27
• Subjects: congenital heart defect -- Hajdu‐Cheney syndrome -- NOTCH2 gene; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.63013
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: Hajdu‐Cheney syndrome is an ultra‐rare autosomal dominant disorder caused by a heterozygous variant in NOTCH2 gene. Characteristic features include osteolysis, distinct facial appearance, skull deformity, joint laxity, osteoporosis, and short stature. Associated abnormalities are congenital heart disease, congenital defects of the kidney, and neurological problems. Here, we present the first reported case of an African child with a variant in NOTCH2 gene and features of Hajdu‐Cheney syndrome in whom we detected a congenital heart defect that has not been previously reported in association with the syndrome. To appropriately characterize this disease and document correct proportion of cardiovascular malformation associations, echocardiography is recommended for all cases of Hajdu Cheney syndrome.