Table 1.
Clinical and genetic diagnosis of our sample
| Diagnosis | Number | Percent |
|---|---|---|
| Without specific diagnosis | 20 | 12,9 |
| Neurofibromatosis type 1 | 13 | 8,4 |
| Williams syndrome | 12 | 7,8 |
| Hemihypertrophy | 11 | 7,1 |
| Cornelia De Lange syndrome | 8 | 5,2 |
| Achondroplasia | 7 | 4,5 |
| Microdeletion 22q11.12 | 5 | 3,2 |
| Down syndrome | 4 | 2,6 |
| Rubinstein-Taybi syndrome | 4 | 2,6 |
| Hypochondroplasia | 3 | 1,9 |
| Syndrome unknown | 3 | 2,9 |
| Charge syndrome | 2 | 1,3 |
| Gorlin syndrome | 2 | 1,3 |
| Kabuki syndrome | 2 | 1,3 |
| Leopard syndrome | 2 | 1,3 |
| Noonan syndrome | 2 | 1,3 |
| Poland syndrome | 2 | 1,3 |
| Proximal spinal muscular atrophy | 2 | 1,3 |
| Psychomotor retardation | 2 | 1,3 |
| Silver Russel syndrome | 2 | 1,3 |
| Aarskog syndrome Angelman syndrome Autism Bardet Biedl syndrome Cardiofaciocutaneous syndrome Cerebral ventriculomegaly and aortic coarctation Citrullinemia Cockayne syndrome Cohen syndrome Coloboma of iris associated with gastro-intestinal reflux and unilateral deafness Congenital encephalopathy Costello syndrome Crouzon syndrome Cutis laxa Deafness Deletion 13p Deletion 18q Deletion 6p Duchenne muscular dystrophy Fanconi Anemia Fetopathy alcoholic Freeman Sheldon syndrome Frontofacial syndrome Goldenhar syndrome Hallermann Streiff syndrome Holt Oram syndrome Kniest dysplasia Lujan Fryns syndrome Marden Walker syndrome Mosaic variegated aneuploidy Mowat Wilson syndrome Mucopolysaccharidosis Paraparesis ataxic Pontocerebellar hypoplasia type 2 Prader Willi syndrome Smith-Magenis syndrome Sotos syndrome Stickler syndrome Syndrome polymalformative unknown Treacher Collins syndrome Trisomy X (47,XXX) Tsukahara syndrome Tuberous sclerosis Ulnar-mammary syndrome Unspecific chromosome alteration Wiskott Aldrich syndrome |
1 | 0,6 |