Hajdu-Cheney syndrome with atypical cardiovascular abnormalities.
Am J Med Genet A
; 191(1): 271-274, 2023 01.
Article
en En
| MEDLINE
| ID: mdl-36301051
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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Osteoporosis
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Anomalías Cardiovasculares
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Síndrome de Hajdu-Cheney
Límite:
Child
/
Humans
Idioma:
En
Año:
2023
Tipo del documento:
Article