C syndrome with apparently normal development.
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.
Stratton
R F
RF
Department of Pediatrics, Wilford Hall USAF Medical Center, Lackland AFB, Texas.
Sykes
N J
NJ
Hassler
T W
TW
D000015:Abnormalities, Multiple / Q000503:physiopathology*; D003071:Cognition; D003398:Craniosynostoses / Q000235:genetics / Q000503:physiopathology*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D010159:Palate / Q000002:abnormalities*; D011597:Psychomotor Performance; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome