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Vol. 19. Issue 9.
Pages 527-529 (November 2023)
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Vol. 19. Issue 9.
Pages 527-529 (November 2023)
Case Report
Acroosteolysis and facial dysmorphia: a new case of Hajdu-Cheney syndrome
Acroosteólisis y dismorfia facial: un nuevo caso de síndrome de Hajdu-Cheney
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Pablo González del Pozo
Corresponding author
pgd795@hotmail.com

Corresponding author.
, Stefanie Burger, Estefanía Pardo Campo, Mercedes Alperi López, Rubén Queiro Silva, Sara Alonso Castro
Servicio de Reumatología, Hospital Universitario Central de Asturias, Oviedo, Spain
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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:
Hajdu-Cheney syndrome
Acroosteolysis
NOTCH2
Resumen

El Síndrome de Hajdu-Cheney o Síndrome acro-dento-osteo-displasia es una enfermedad rara caracterizada por osteólisis en banda de falanges distales y dismorfia facial, entre otras manifestaciones. Describimos el caso de un varón de 45 añosque consultó por dolor articular de características mecánicas en manos, asociando dismorfia facial, alteraciones craneofaciales y deformidades digitales en telescopaje con acroosteólisis.

Palabras clave:
Síndrome Hajdu-Cheney
Acroosteólisis
NOTCH2

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