A family with dominant inheritance of a previously unreported syndrome of craniofacial dysplasia and cone-shaped physes of the hands and feet is described. Hydrocephalus and spinal cord compression at the craniocervical junction causes neurological complications and mimics cerebral palsy. Early diagnosis and treatment may prevent progression of neurological changes.
- Cerebral palsy
- Cone-shaped epiphyses
- Craniofacial dysplasia
- Spinal cord compression
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Orthopedics and Sports Medicine