The corpus callosum was incompletely developed or absent altogether, and there were occasional EEG abnormalities. Facial characteristics included a prominent forehead, upswept frontal hairline, down-slanting palpebral fissures, ocular hypertelorism, and small prominent ears with a simplified helical pattern. In this first family, FG syndrome was defined as a multiple congenital anomaly syndrome characterized by relatively large head, broad and flat thumbs, imperforate anus, hypotonia and moderately severe mental retardation. FG syndrome (Opitz-Kaveggia syndrome, OMIM 305450) was delineated by Opitz and Kaveggia in 1974 based on the clinical findings in three brothers and two of their male first cousins. Our findings reinforce the importance of testing for the p.R961W MED12 mutation in males who are suspected of having developmental and behavioral problems with a clinical phenotype that is consistent with FG syndrome.ĭistinctive behavior has become a useful delineating manifestation of many clinical syndromes. Based on the behavior phenotype in 10 males with this recurrent MED12 mutation, we offer specific recommendations and interventional strategies. ![]() In addition, they were at increased risk for maladaptive behavior, with a propensity towards aggression, anxiety, and inattention. Males with this MED12 mutation had deficits in communication skills compared to their socialization and daily living skills. We also characterize the behavior of eight additional individuals with FG syndrome and this recurrent mutation in MED12 using the Vineland Adaptive Behavior Scales 2 nd ed., the Reiss Profile of Fundamental Goals and Motivation Sensitivities, and the Achenbach Child Behavior Checklist. We present case studies of two older males with FG syndrome and the p.R961W mutation to illustrate how their behavior changes with age. The previously defined behavior phenotype of hyperactivity, affability, and excessive talkativeness is very frequent in young boys with this mutation, along with socially oriented, attention-seeking behaviors. identified an identical mutation (p.R961W) in MED12 in six families with Opitz-Kaveggia syndrome, including a surviving affected man from the family reported in 1974. Opitz and Kaveggia reported on a family of five affected males with distinctive facial appearance, mental retardation, macrocephaly, imperforate anus and hypotonia.
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