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CDAGS syndrome

 

Autosomal recessive condition that brings together apparently opposing pathophysiologic and developmental processes, including accelerated suture closure and delayed ossification.

Synopsis

-  craniosynostosis
-  delayed closure of the fontanel
-  cranial defects
-  clavicular hypoplasia
-  anal malformations
-  genitourinary malformations
-  skin eruption

References

-  Mendoza-Londono R, Lammer E, Watson R, Harper J, Hatamochi A, Hatamochi-Hayashi S, Napierala D, Hermanns P, Collins S, Roa BB, Hedge MR, Wakui K, Nguyen D, Stockton DW, Lee B. Characterization of a New Syndrome That Associates Craniosynostosis, Delayed Fontanel Closure, Parietal Foramina, Imperforate Anus, and Skin Eruption: CDAGS. Am J Hum Genet. 2005 Jul;77(1):161-8. PMID: #15924278#



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