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| http://dx.doi.org/10.1007/s10803-009-0811-7 | DOI Listing |
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KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.
Am J Med Genet A
February 2007
Department of Pediatrics, Division of Genetics, University of California, San Francisco, California 94143-0748, USA.
KBG syndrome is a multiple congenital anomaly (MCA) syndrome comprising developmental delay, postnatal short stature, and delayed bone age. Many physical anomalies involving the face, hands, and costovertebral axis have been described in this syndrome. We present twin males with KBG syndrome and a review of 50 published case reports, with particular emphasis on the neurological aspects of KBG syndrome, including seizures, MRI findings, and behavior difficulties.
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