Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
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.
du Souich
Christèle
C
Rare Disease Foundation, Vancouver, British Columbia, Canada. cdusouich@cw.bc.ca
Chou
Athena
A
Yin
Jingyi
J
Oh
Tracey
T
Nelson
Tanya N
TN
Hurlburt
Jane
J
Arbour
Laura
L
Friedlander
Robin
R
McGillivray
Barbara C
BC
Tyshchenko
Nataliya
N
Rump
Andreas
A
Poskitt
Kenneth J
KJ
Demos
Michelle K
MK
Van Allen
Margot I
MI
Boerkoel
Cornelius F
CF
D000293:Adolescent; D000328:Adult; D001824:Body Constitution; D002540:Cerebral Cortex / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D019066:Facies; D017809:Fatal Outcome; D005260:Female; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D038901:X-Linked Intellectual Disability / Q000150:complications* / Q000235:genetics*; D008831:Microcephaly / Q000150:complications* / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D011247:Pregnancy; D011859:Radiography