Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report.
Acroosteolysis
Hajdu Cheney
NOTCH2
Journal
Bone reports
ISSN: 2352-1872
Titre abrégé: Bone Rep
Pays: United States
ID NLM: 101646176
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
30
05
2023
revised:
17
08
2023
accepted:
17
08
2023
medline:
4
9
2023
pubmed:
4
9
2023
entrez:
4
9
2023
Statut:
epublish
Résumé
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. 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. 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.
Identifiants
pubmed: 37664144
doi: 10.1016/j.bonr.2023.101709
pii: S2352-1872(23)00057-8
pmc: PMC10474580
doi:
Types de publication
Case Reports
Langues
eng
Pagination
101709Informations de copyright
© 2023 Published by Elsevier Inc.
Déclaration de conflit d'intérêts
The authors state that they do not have any competing interests.
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