| Phenotype | Overgrowth, advanced bone age (3SD older than chronological age), obesity, macrocephaly, partial fusion of spine at C2-C3, hypertelorism, "carp-shaped" mouth, behavioral problems including temper tantrums, hitting of head and chest when frustrated, aggression, problems with toilet training, encopresis (defecating in particular). History of febrile seizures (X2), no epilepsy. History of respiratory problems including pneumonia and acute asthma, especially in the cold weather. |