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Crouzon twins with cloverleaf skull malformations.

D J David1, R D Cooter, T J Edwards

  • 1Adelaide Children's Hospital, Australia.

The Journal of Craniofacial Surgery
|July 1, 1991
PubMed
Summary
This summary is machine-generated.

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This study details rare identical twins diagnosed with Crouzon disease and cloverleaf skull deformities. Early surgical intervention was necessary due to severe symptoms like hydrocephalus and exophthalmos.

Area of Science:

  • Medical Genetics
  • Pediatric Neurosurgery
  • Developmental Biology

Background:

  • Crouzon disease is a rare genetic disorder characterized by premature fusion of skull sutures.
  • Cloverleaf skull deformity, or trigonocephaly, is an unusual and severe skull malformation.

Observation:

  • Monozgotic twins presented with Crouzon disease and cloverleaf skull deformities identified antenatally.
  • The twins exhibited significant exophthalmos, hydrocephalus, and papilledema, necessitating early surgical intervention.
  • A family history revealed a milder Crouzon's disease in a cousin and high-arched palate on the paternal side.

Findings:

  • This case highlights an exceptionally rare occurrence of identical twins with both Crouzon disease and cloverleaf skull.
  • Early diagnosis and surgical decompression were critical for managing the severe craniofacial and neurological complications.

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Implications:

  • This case underscores the importance of genetic counseling and early diagnosis in families with a history of craniofacial abnormalities.
  • Further research into the genetic underpinnings and phenotypic variability of Crouzon disease in twins is warranted.
  • Understanding such rare presentations can improve diagnostic and therapeutic strategies for complex craniofacial syndromes.