My daughter does not develop properly … Dr. György Fekete

K.M. female child Birth date : Presentation: Symptoms :  Somatic and psychomotoric developmental delay  Hypotonic muscles  Craniofacial dysmorphy

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

Similarity? Resembling to known phenotype?

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

Hypertension  Supravalvular aortic stenosis  Peripheral pulmonary stenosis

Multisystemic disease

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

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

Radioulnar synostosis

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

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

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

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