Pfeiffer syndrome or acrocephalosyndactyly type 5 is a complex craniosynostosis syndrome characterized by craniosynostosis and broad thumbs and toes. Nineteen cases had their case notes and X-rays reviewed. A wide range of anomalies was seen with many bones within the hand affected on occasion by fusions. The most common anomalies were hypoplasia of the middle phalanx of the little or index fingers which occurred in the majority of cases. This finding may be of more use in establishing clinical diagnosis than the traditional thumb assessment.
ASJC Scopus subject areas