✦ LIBER ✦
Craniosynostosis, Philadelphia type: A new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes
✍ Scribed by Robin, Nathaniel H.; Segel, Barbara; Carpenter, Gary; Muenke, Maximilian
- Publisher
- John Wiley and Sons
- Year
- 1996
- Tongue
- English
- Weight
- 74 KB
- Volume
- 62
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
✦ Synopsis
The acrocephalosyndactyly syndromes (ACS) are a group of clinically similar disorders that share the manifestations of craniosynostosis and a variety of hand and foot anomalies. Here we report on a 5-generation kindred segregating sagittal craniosynostosis and syndactyly of the fingers and the toes in an autosomal dominant manner. The anomalies seen in this kindred comprise a syndrome distinct from other craniosynostosis syndromes. For this novel syndrome, we propose the name craniosynostosis, Philadelphia type.