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Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus
American Journal of Medical Genetics, 10/23/09
Du Souich C et al. – Prominent characteristics include mild to severe MR, cortical malformation, microcephaly, seizures, thin build with distinct facial features including a long and thin face, epicanthic folds, almond–shaped eyes, upslanting palpebral fissures and micrognathia and behavioral problems. Carrier females have normal physical appearance and intelligence. This combination of features is unreported and distinct from Lujan–Fryns syndrome, Snyder–Robinson syndrome, and zinc finger DHHC domain–containing 9–associated MR. The authors propose the name of this new syndrome to be CK syndrome.
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