Table 1 Clinical and genetic diagnosis of our sample

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