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[Angel-shaped phalango-epiphyseal dysplasia: case report]
René Conci1, Alicia Oller2, Martín Moya3
1Instituto Conci Carpinella, ciudad de Córdoba, Argentina. reneconci@concicarpinella.com.ar.
Archivos Argentinos De Pediatria
|January 19, 2017
Summary
This study identifies a rare genetic condition causing swan neck deformity, hip osteoarthritis, and unique angel-shaped phalangeal malformations. The diagnosis in a child led to identifying the same syndrome in his mother.
Area of Science:
- Genetics
- Orthopedics
- Pediatric Medicine
Background:
- A rare sporadic condition presents with distinct physical malformations.
- Key features include swan neck deformity, adult-onset hip osteoarthritis, and angel-shaped middle phalanges.
Observation:
- A 4-year-old boy presented with hand trauma, revealing angel-shaped phalango-epiphyseal dysplasia via X-ray.
- The patient exhibited a characteristic swan neck deformity in his hands.
Findings:
- The boy's mother was diagnosed with the same syndrome, presenting with hip osteoarthritis and lower limb pain.
- This suggests an inherited component to the condition, despite initial sporadic presentation.
Implications:
- The findings expand the understanding of rare skeletal dysplasias and their phenotypic variability.
- This case report aids in diagnosing similar conditions, improving patient management and genetic counseling.
