Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report.
Hajdu-Cheney syndrome
NOTCH2
acroosteolysis
bone resorption
osteoporosis
rare diseases
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
02 Sep 2022
02 Sep 2022
Historique:
received:
19
08
2022
revised:
27
08
2022
accepted:
31
08
2022
entrez:
9
9
2022
pubmed:
10
9
2022
medline:
10
9
2022
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 36079132
pii: jcm11175205
doi: 10.3390/jcm11175205
pmc: PMC9457082
pii:
doi:
Types de publication
Case Reports
Langues
eng
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