Corpus callosum agenesis in Coffin-Lowry syndrome.
We describe a boy with the syndrome of Coffin-Lowry whose CT-scan showed corpus callosum agenesis. Follow-up data are given and diagnostic considerations are discussed. A review is given of the CNS-malformations so far reported in patients with the syndrome of Coffin-Lowry.
Centre for Human Genetics, University of Leuven, Belgium.
D
D
Soekarman
J P
JP
Fryns
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D003337:Corpus Callosum / Q000473:pathology; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009460:Neurologic Examination; D012600:Scoliosis / Q000175:diagnosis / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014960:X Chromosome