Craniosynostosis, Philadelphia type: a new autosomal dominant syndrome with sagittal craniosynostosis and syndactyly of the fingers and toes.
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.
Robin
N H
NH
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, Pennsylvania USA.
Segel
B
B
Carpenter
G
G
Muenke
M
M
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D000328:Adult; D002869:Chromosome Aberrations / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D025063:Chromosome Disorders; D003398:Craniosynostoses / Q000000981:diagnostic imaging / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005385:Fingers / Q000002:abnormalities* / Q000473:pathology; D005799:Genes, Dominant; D030342:Genetic Diseases, Inborn / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D015143:Philadelphia; D011859:Radiography; D013577:Syndrome; D014034:Toes / Q000002:abnormalities* / Q000473:pathology