Craniocervical CT and MR imaging of Schwartz-Jampel syndrome.
Schwartz-Jampel syndrome is a rare, inherited disorder characterized by myotonia, skeletal deformities, facial dysmorphism, and growth retardation. In this report of an adolescent male patient with Schwartz-Jampel syndrome, CT and MR imaging revealed basilar invagination, platybasia, Chiari I malformation, hyperpneumatized mastoids with intramastoid dural sinuses, platyspondyly, bulbous zygoma, and blunted pterygoid processes.
D000293:Adolescent; D001139:Arnold-Chiari Malformation / Q000175:diagnosis; D001921:Brain / Q000473:pathology*; D002574:Cervical Vertebrae / Q000473:pathology*; D003937:Diagnosis, Differential; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008279:Magnetic Resonance Imaging; D008297:Male; D008416:Mastoid / Q000473:pathology; D008526:Medulla Oblongata / Q000473:pathology; D009777:Occipital Bone / Q000473:pathology*; D010009:Osteochondrodysplasias / Q000175:diagnosis*; D010985:Platybasia / Q000175:diagnosis; D011149:Pons / Q000473:pathology; D013130:Spinal Stenosis / Q000175:diagnosis; D014057:Tomography, X-Ray Computed; D015050:Zygoma / Q000473:pathology