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Hajdu-Cheney syndrome with a novel variant in NOTCH2 gene: A case report

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-ol...

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Detalles Bibliográficos
Autores principales: Abdelkarim, Mariam, Alageel, Dalal, Ahsan, Faridul, Alhuthil, Raghad, Alsarhani, Haifa, Alsagheir, Afaf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10474580/
https://www.ncbi.nlm.nih.gov/pubmed/37664144
http://dx.doi.org/10.1016/j.bonr.2023.101709
Descripción
Sumario: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.