X-linked mental retardation (XLMR) affects 1-2/1,000 males and accounts for approximately 10% of all mental retardation (MR). We have ascertained a syndromic form of XLMR segregating within a five-generation family with seven affected males. 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. We propose the name of this new syndrome to be CK syndrome.

Obsessional slowness may be a severe variant of OCD. Although it appears to occur infrequently, there may be an elevated rate in people with DS. The current report is severely limited in scope since the case descriptions were based on a retrospective review. However, because of the paucity of published information about this clinical phenomena, it was felt that the case series might serve to establish the need for further, more systematic, prospective evaluation of individuals with DS and clinically significant slowness.

Atypicals are useful in treating various conditions associated with DDs. This population, however, seems particularly sensitive to NIMDs, hence caution and close monitoring are required.

No abstract