Acroosteolysis and facial dysmorphia: a new case of Hajdu-Cheney syndrome

Pablo González Del Pozo; Stefanie Burger; Estefanía Pardo Campo; Mercedes Alperi López; Rubén Queiro Silva; Sara Alonso Castro

doi:10.1016/j.reumae.2023.10.001

Acroosteolysis and facial dysmorphia: a new case of Hajdu-Cheney syndrome

Reumatol Clin (Engl Ed). 2023 Nov;19(9):527-529. doi: 10.1016/j.reumae.2023.10.001. Epub 2023 Oct 17.

Authors

Pablo González Del Pozo¹, Stefanie Burger², Estefanía Pardo Campo², Mercedes Alperi López², Rubén Queiro Silva², Sara Alonso Castro²

Affiliations

¹ Servicio de Reumatología, Hospital Universitario Central de Asturias, Oviedo, Spain. Electronic address: [email protected].
² Servicio de Reumatología, Hospital Universitario Central de Asturias, Oviedo, Spain.

PMID: 37858457
DOI: 10.1016/j.reumae.2023.10.001

Abstract

Hajdu-Cheney syndrome or acro-dento-osteo-dysplasia syndrome is a rare disease characterized by band osteolysis of distal phalanges and facial dysmorphia, among other manifestations. We present the case of a 45-year-old male who consulted for mechanical joint pain of both hands, facial dysmorphism, cranio-facial alterations, and digital telescoping with acroosteolysis.

Keywords: Acroosteolysis; Acroosteólisis; Hajdu-Cheney syndrome; NOTCH2; Síndrome Hajdu-Cheney.

Publication types

Case Reports

MeSH terms

Acro-Osteolysis* / diagnostic imaging
Acro-Osteolysis* / etiology
Hajdu-Cheney Syndrome* / diagnosis
Hajdu-Cheney Syndrome* / diagnostic imaging
Hand
Humans
Male
Middle Aged
Rare Diseases