Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report.
Bone Rep
; 19: 101709, 2023 Dec.
Article
em En
| MEDLINE
| ID: mdl-37664144
ABSTRACT
Introduction:
Hajdu-Cheney syndrome is a rare disorder caused by truncation mutations in exon 34 of the NOTCH2 gene. The main presentation includes acro-osteolysis, osteoporosis, and dysmorphism. This syndrome affects the other body systems as well. Case presentation We report a case of a 6-year-old female that initially developed polyhydramnios and short upper limbs as a fetus. In addition, the patient had multiple anomalies as a neonate, including dysmorphism, congenital heart disease, hearing loss, recurrent respiratory tract infections, skeletal abnormalities, renal cysts, and hypertension. She continues to receive multidisciplinary care, and the finding of a C.7021C > T P.Q2341x mutation in exon 34 of the NOTCH2 gene confirms the diagnosis. To our knowledge, this is the first case to report this variant in the literature.Discussion:
Because of the rarity of this syndrome and its diverse presentation, a high index of suspicion accompanied by genetic testing is paramount for diagnosing Hajdu-Cheney syndrome. We recommend a multidisciplinary approach for these patients to provide the highest possible quality of care.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Bone Rep
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Arábia Saudita