1. My daughter does not develop properly … Dr. György Fekete

2. K.M. female child Birth date : 02. 28. 2009. Presentation: 08. 23. 2010. Symptoms :  Somatic and psychomotoric developmental delay  Hypotonic muscles  Craniofacial dysmorphy

6. History  First child, healthy parents  Mother was 24, father 27 when she was born  Birth weight: 2640 g., length: 45 cm, 39. gestational week, normal delivery, Apgar: 10/10

8. Similarity? Resembling to known phenotype?

9. Craniofacial dysmorphy  Sunken nasal bridge  Epicanthal fold  Long philtrum  Prominent lower lip  Hypodontia  Mikrodontia  Blue/ green iris

10. Hypertension  Supravalvular aortic stenosis  Peripheral pulmonary stenosis

11. Multisystemic disease

12. Other symptoms  Kyphoscoliosis, arthropathy  Inguinal and umbilical hernia  Loose skin  Chronic constipation, diverticulosis  Deep voice  Sensoneural hearing loss  Congenital malformations of kidneys  Laboratory: Hypercalcemia  Nephrocalcinosis

13. Endocrinological problems  Hypothyreosis  Early puberty  Early menarche  Diabetes mellitus

14. Radioulnar synostosis

15.  Friendly, extroverted personality, („cocktail party personality”)  Mild cognitive disturbances  Good vocabulary  Good skill to music, singing

16. Williams- Beuren syndrome Incidence 1 : 8000, sporadic, unbalaned meiotic cross - over 7q11.23mMckrodeletion 7q11.23mMckrodeletion Deletion of elastin gene and neighbouring genes Deletion of elastin gene and neighbouring genes GTF2IRD1 (General transcription factor II-I repeat domain- containing protein 1) GTF2IRD1 (General transcription factor II-I repeat domain- containing protein 1) GTF2I (General transcription factor II-I) GTF2I (General transcription factor II-I) Genetic diagnostic methods: Genetic diagnostic methods: - FISH - FISH - DNA analysis - DNA analysis

18.  J.C.P. Williams, cardiologist, Auckland, New - Zealand, 1930 - ? Publication in: 1961  Alois J. Beuren, cardiologist, Göttingen, 1919-1984

19. Genetic counselling  Discussion of present and later symptoms  Prognosis  Pedigree analysis  Special care and support of skills  Patient organisations