J Korean Soc Radiol.  2009 Jan;60(1):57-60. 10.3348/jksr.2009.60.1.57.

A Case Report of Pfeiffer Syndrome with Spinal Anomaly

• Shin CH
• Yi BH
• Hong HS
• Lee HK
• Park SJ

• KMID: 1471161
• DOI: http://doi.org/10.3348/jksr.2009.60.1.57

Abstract

Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull as well as skeletal deformities, including broad thumbs, great toes, and mid-face anomalies. In our case study, the spinal deformity was combined with type II Pfeiffer syndrome. We describe the radiologic findings of the vertebral and spinal cord anomalies, with emphasis on the magnetic resonance imaging (MRI) findings, and a review of the literature on spinal deformities associated with Pfeiffer syndrome.

MeSH Terms

Acrocephalosyndactylia
Congenital Abnormalities
Magnetic Resonance Imaging
Skull
Spinal Cord
Thumb
Toes