Table 3 Severity of diagnosis in our sample

• unlocalized

• costitutional

• no mental retardation

• health charging necessary and ongoing

• multiple malformation

• costitutional

• mental retardation

• health charging necessary and ongoing

Achondroplasia; Bardet Biedl syndrome; Cerebral ventriculomegaly and aortic coarctation; Charge syndrome; Citrullinemia; Coloboma of iris associated with gastro-intestinal reflux and unilateral deafness; Crouzon syndrome; Deafness; Freeman Sheldon syndrome; Goldenhar syndrome; Gorlin syndrome; Hypochondroplasia; Kniest dysplasia; Leopard syndrome; Microdeletion 22q11.12; Mosaic variegated aneuploidy; Neurofibromatosis type 1; No diagnosis; Noonan syndrome; Paraparesis ataxic; Psychomotor retardation; Stickler syndrome; Syndrome polymalformative unknown; Treacher Collins syndrome; Tsukahara syndrome; Tuberous sclerosis; Wiskott Aldrich syndrome.

Angelman syndrome; Autism; Cardiofaciocutaneous syndrome; Cockayne syndrome; Cohen syndrome; Congenital encephalopathy; Cornelia De Lange syndrome; Costello syndrome; Deletion 13p; Deletion 18q; Deletion 6p; Down syndrome; Duchenne muscular dystrophy; Fanconi Anemia; Fetopathy alcoholic; Frontofacial syndrome; Hallermann Streiff syndrome; Hallermann Streiff syndrome; Kabuki syndrome; Lujan Fryns syndrome; Marden Walker syndrome; Mowat Wilson syndrome; Mucopolysaccharidosis; Pontocerebellar hypoplasia type 2; Prader Willi syndrome; Proximal spinal muscular atrophy; Rubinstein-Taybi syndrome; Smith-Magenis syndrome; Sotos syndrome; Unspecific chromosome alteration; Williams syndrome.