Robin N H, Segel B, Carpenter G, Muenke M
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Pennsylvania USA.
Am J Med Genet. 1996 Mar 15;62(2):184-91. doi: 10.1002/(SICI)1096-8628(19960315)62:2<184::AID-AJMG13>3.0.CO;2-K.
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.
尖头并指（趾）综合征（ACS）是一组临床症状相似的疾病，具有颅缝早闭以及多种手足异常的表现。在此，我们报告一个五代家系，该家系以常染色体显性方式遗传矢状缝颅缝早闭以及手指和脚趾并指（趾）症状。在这个家系中观察到的异常构成了一种与其他颅缝早闭综合征不同的综合征。对于这种新型综合征，我们提议命名为费城型颅缝早闭综合征。
