C syndrome with apparently normal development
- 1 December 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 37 (4) , 460-462
- https://doi.org/10.1002/ajmg.1320370406
Abstract
C syndrome is an autosomal recessive craniosynostosis syndrome with characteristic cranial, facial, palate, and joint abnormalities. All but 2 of the reported patients have had severe mental retardation. We report on an 8‐month‐old girl with C syndrome and apparently normal development except for tasks hindered by her lower body abnormalities. We also offer a possible explanation for the palatal configuration.Keywords
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