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Crouzon twins with cloverleaf skull malformations
D J David1, R D Cooter, T J Edwards
1Adelaide Children's Hospital, Australia.
Insights
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.
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.
Abstract:
We describe unique monozygotic twins with Crouzon's disease and cloverleaf-shaped skull deformities who have been closely followed since birth. Their abnormal skull shapes were identified during antenatal ultrasound examination. The twins had gross exophthalmos and hydrocephalus with papilledema, so early calvarial decompression surgery was required. Although born to healthy parents of normal appearance, a third cousin of the twins had a milder form of Crouzon's disease, and there was a family history of high-arched palate on the twins' paternal side. Because Crouzon's disease is an uncommon condition and the cloverleaf skull shape is unusual in patients with Crouzon's disease, identical twins with this constellation of deformities must be exceptionally rare.