Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia Latest Advances

Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry

Published: January 05, 2025

Case Report: A neurodevelopmental disorder with global developmental delay, microcephaly, eye anomalies, sweat dysregulation, and skeletal implications due to an ultra-rare de novo 5q14.3q15 copy number gain.

Journal: Frontiers in genetics

Published: December 21, 2024

Ultrasound's role in differentiating camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome from inflammatory arthritis in children. A narrative review.

Journal: Medical ultrasonography

Published: December 20, 2024

An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients.

Journal: Diagnostics (Basel, Switzerland)

Published: December 11, 2024

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Journal: The journal of hand surgery Asian-Pacific volume

Published: November 15, 2024

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Expert consensus on the clinical diagnosis and treatment of Congenital syndactyly (2025 Edition)

Expert consensus on the clinical diagnosis and treatment of Congenital syndactyly (2025 Edition)

A frameshift mutation in the PRG4 gene causing camptodactyly-arthropathy-coxa vara-pericarditis syndrome: a case report.

A frameshift mutation in the PRG4 gene causing camptodactyly-arthropathy-coxa vara-pericarditis syndrome: a case report.

Malignant hyperthermia and the dilemma of Dantrolene's unavailability: A case report.

Malignant hyperthermia and the dilemma of Dantrolene's unavailability: A case report.

Haploinsufficiency of SF3B2 revealed by a craniofacial microsomia with atypical presentation: a case report.

Haploinsufficiency of SF3B2 revealed by a craniofacial microsomia with atypical presentation: a case report.

Labor Analgesia in a Patient With Beals Syndrome: A Case Report of Management Challenges.

Labor Analgesia in a Patient With Beals Syndrome: A Case Report of Management Challenges.

Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.

Congenital Ataxia with Progressive Cerebellar Atrophy, Camptodactyly, and Hypertrichosis: A Novel Recognizable Phenotype for NALCN Heterozygous Variants.

Stüve-Wiedemann syndrome with a novel variant in the LIFR gene: A case report.

Stüve-Wiedemann syndrome with a novel variant in the LIFR gene: A case report.

Jacobsen Syndrome, Paris-Trousseau Syndrome, and Dental Extractions: Case Report, Medical, Dental, and Social Considerations.

Jacobsen Syndrome, Paris-Trousseau Syndrome, and Dental Extractions: Case Report, Medical, Dental, and Social Considerations.

Case Report: A neurodevelopmental disorder with global developmental delay, microcephaly, eye anomalies, sweat dysregulation, and skeletal implications due to an ultra-rare de novo 5q14.3q15 copy number gain.

Case Report: A neurodevelopmental disorder with global developmental delay, microcephaly, eye anomalies, sweat dysregulation, and skeletal implications due to an ultra-rare de novo 5q14.3q15 copy number gain.

Ultrasound's role in differentiating camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome from inflammatory arthritis in children. A narrative review.

Ultrasound's role in differentiating camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome from inflammatory arthritis in children. A narrative review.

An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients.

An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients.

Camptodactyly.

Camptodactyly.