Twins with KBG Syndrome and Autism

In 1975, Herrmann et al. first described KBG syndrome. The letters “KBG” were derived from the surnames of three unrelated families from which seven patients with the syndrome were identified. In the original report KBG was assumed to be an autosomal dominant condition characterized by short stature, skeletal abnormalities, mental retardation, dental abnormalities and distinct craniofacial anomalies. Since then an additional 51 patients have been reported. Monozygotic twins diagnosed with KBG syndrome were described as having autistic features in a recent article (Skjei et al. 2007). Here we report additional findings on the same twins. Through appropriate diagnostic testing, it was established that they did meet criteria for autism. We also reviewed the literature of previously published cases of KBG for reports of autism symptoms. …