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Angel-shaped phalanges in brachydactyly C: a case report, and speculation on pathogenesis
Alessandro Castriota-Scanderbeg1, Francesco Giuseppe Garaci, Giampiero Beluffi
1Department of Radiology, Foundation Ospedale Card. G. Panico, via S. Pio X, 4, Tricase (Le), Italy. scanderbeg@piafondazionepanico.it
Pediatric Radiology
|November 27, 2004
Summary
Brachydactyly type C, a rare genetic disorder, can cause unusual bone shapes in children. This study highlights a unique
Area of Science:
- Medical Genetics
- Skeletal Dysplasias
- Pediatric Orthopedics
Background:
- Brachydactyly type C is a rare congenital disorder characterized by disproportionately short fingers and toes.
- Genetic mutations affecting bone development are the primary cause of brachydactyly.
- Understanding the phenotypic variability is crucial for accurate diagnosis and management.
Observation:
- A familial case of brachydactyly type C presented with a unique 'angel-shaped' proximal phalangeal morphology in one hand of a child.
- The contralateral hand exhibited typical triangular epiphyses with radial elongation.
- This striking asymmetry suggests a localized and potentially transient developmental anomaly.
Findings:
- The 'angel-shaped' phalangeal appearance is hypothesized to result from severe ossification delay.
- This delay is most pronounced at the primary ossification center during early to mid-childhood.
- The configuration may represent a transitory developmental stage in affected phalanges.
Implications:
- This observation expands the known phenotypic spectrum of brachydactyly type C.
- It underscores the importance of detailed imaging in diagnosing skeletal dysplasias.
- Further research into the genetic and developmental mechanisms of phalangeal ossification is warranted.