Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 37664144.
- Also identified by DOI 10.1016/j.bonr.2023.101709 and PMC identifier 10474580.
- Licence recorded as CC BY-NC-ND.
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Abstract
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.