RT Journal Article
T1 Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report.
A1 Cortés-Martín, Jonathan
A1 Díaz-Rodríguez, Lourdes
A1 Piqueras-Sola, Beatriz
A1 Sánchez-García, Juan Carlos
A1 González, Antonio Liñán
A1 Rodríguez-Blanque, Raquel
K1 Hajdu-Cheney syndrome
K1 NOTCH2
K1 acroosteolysis
K1 bone resorption
K1 osteoporosis
K1 rare diseases
AB A case report of an 11-year-old boy with a de novo variant in NOTCH2 and clinical features characteristic of Hajdu-Cheney syndrome is reported, with acroosteolysis of the distal phalanges of the feet and hands, generalized osteoporosis, musculoskeletal and craniofacial alterations, short stature, bowing of long bones, vertebral anomalies, genu recurvatum, hypertrichosis, joint and skin hyperlaxity, atopic dermatitis, megalocorneas, micrognathia and frequent respiratory infections, among others. Treatment is with bisphosphonates in the framework of bone density improvement and with focal vibration therapy for rehabilitation of the musculoskeletal system and gait improvement. The three generalities of this pathology-phenotypic variability, degenerative character and the presence of generalized osteoporosis and acroosteolysis of the distal phalanges-are seen in this case, whose diagnostic confirmation was made by genetic study.
SN 2077-0383
YR 2022
FD 2022-09-02
LK http://hdl.handle.net/10668/21344
UL http://hdl.handle.net/10668/21344
LA en
DS RISalud
RD Apr 10, 2025