Hajdu-Cheney Syndrome Latest Advances

Find the Latest Research About Hajdu-Cheney Syndrome

Last Updated: 04/28/2026

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Found 2783 publications

Long-Term Successful Nonoperative Management of a Displaced Pediatric Odontoid Fracture in Hereditary Sensory and Autonomic Neuropathy Type IV: A Case Report.

Long-Term Successful Nonoperative Management of a Displaced Pediatric Odontoid Fracture in Hereditary Sensory and Autonomic Neuropathy Type IV: A Case Report.

Journal: JBJS case connector
Published: March 21, 2026

ELP1 Gene Augmentation Restores Visual Function in a Mouse Model of Familial Dysautonomia.

ELP1 Gene Augmentation Restores Visual Function in a Mouse Model of Familial Dysautonomia.

Journal: bioRxiv : the preprint server for biology
Published: January 16, 2026

Hajdu-Cheney Syndrome With Coexisting Rheumatoid Arthritis: A Diagnostic Challenge.

Hajdu-Cheney Syndrome With Coexisting Rheumatoid Arthritis: A Diagnostic Challenge.

Journal: Cureus
Published: January 14, 2026

Atypical Early Presentation of Multicentric Carpotarsal Osteolysis: Ankle Pain and Cavovarus Deformity Without Osteolysis.

Atypical Early Presentation of Multicentric Carpotarsal Osteolysis: Ankle Pain and Cavovarus Deformity Without Osteolysis.

Journal: Cureus
Published: January 06, 2026

The neuroimmune axis and chronic pain disorders.

The neuroimmune axis and chronic pain disorders.

Journal: iScience
Published: January 05, 2026

Complete phenotyping of the pathogenic genotype of the NTRK1 gene in early childhood.

Complete phenotyping of the pathogenic genotype of the NTRK1 gene in early childhood.

Journal: Laboratory medicine
Published: December 16, 2025

Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4.

Acute leukoencephalopathy with restricted diffusion (ALERD) in a toddler: A diagnostic challenge unmasking hereditary sensory autonomic neuropathy type 4.

Journal: BMJ case reports
Published: December 12, 2025

Expanding the Clinical Spectrum of PIEZO2 Duplications: A Case of Global Motor Delay, Congenital Sensory Neuropathy, and Musculoskeletal Abnormalities.

Expanding the Clinical Spectrum of PIEZO2 Duplications: A Case of Global Motor Delay, Congenital Sensory Neuropathy, and Musculoskeletal Abnormalities.

Journal: Cureus
Published: November 14, 2025

Recurrent Oral Ulcers and Self-Mutilation in Infancy: Distinguishing Congenital Insensitivity to Pain with Anhidrosis from Lesch-Nyhan Syndrome.

Recurrent Oral Ulcers and Self-Mutilation in Infancy: Distinguishing Congenital Insensitivity to Pain with Anhidrosis from Lesch-Nyhan Syndrome.

Journal: Indian journal of pediatrics
Published: November 10, 2025

Prime editing of the common Familial Dysautonomia-causing c.2204 + 6T > C splicing mutation.

Prime editing of the common Familial Dysautonomia-causing c.2204 + 6T > C splicing mutation.

Journal: Orphanet journal of rare diseases
Published: October 29, 2025

Vanishing Bones and Stubborn Joints: Unravelling the Enigma of Multicentric Osteolysis, Nodulosis, and Arthropathy Syndrome.

Vanishing Bones and Stubborn Joints: Unravelling the Enigma of Multicentric Osteolysis, Nodulosis, and Arthropathy Syndrome.

Journal: Cureus
Published: October 14, 2025

Band Acro-Osteolysis as a Less Common Radiologic Pattern in Systemic Scleroderma: A Case Report.

Band Acro-Osteolysis as a Less Common Radiologic Pattern in Systemic Scleroderma: A Case Report.

Journal: Clinical medicine insights. Case reports
Published: October 09, 2025
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Last Updated: 04/28/2026