100 Williams-Beuren syndrome: a case series

Abstract

<h3></h3> Williams-Beuren syndrome (WBS) is developmental disorder caused by microdeletion of genes from chromosome 7. It is estimated in 1 of 10 000 people. WBS could be autosomal-dominant inherited, but usually, it is caused by de novo microdeletion of 26-28 genes on chromosome 7. Usually genes such as CLIP2, NCF1, ELN, GTF2I, GTF2IRD1 and LIMK1 are deleted. ELN gene is detected as a cause of supravalvular aortic stenosis, while absence of NCF1 gene is related to hypertension. Patients with WBS are characterized by cardiovascular diseases, facial dysmorphic features, intellectual disability, unique personality character and endocrine abnormalities. <h3>Case Report</h3> We present the case of three patients, two girls at the ages of one and three years and a boy at the age of two years. All three patients have healthy parents and brothers and sisters without known chronic or genetic diseases. All three were presented with facial dysmorphic features which include broad nasal bridge, microretrognathia, large mouth, upper lip is thin while lower lip is thicker. All three patients are cognitively deficient and they have speech problems. The female patient at the age of three years also has hypertension, small teeth, larger neurocranium, atrial and ventricular (muscular) septal defect, gastroesophageal reflux disease (GERD), hypothonia and endocrine disorders; hypercalcemia, hypercalciuria, hypothyroidism and early puberty. The male patient also has prominent ears, palmar crease on left palm, pulmonary stenosis with mitral regurgitation and bilateral inguinal hernia. All three patients were suspective for WBS. Karyograms of all patients were normal, but FISH analysis performed with ELN primer for detection of WBS proved microdeletion on chromosome 7 in region 11 (7q11). <h3>Conclusion</h3> WBS is rare disorder characterised by wide range of symptoms and signs. Clinical diagnostic criteria are available for WBS, but conformation of diagnosis requires detection of microdeletion on chromosome 7q11.2. Early recognition of specific patterns of the disorder, such as facial dysmorphic features together with heart abnormalities, cognitive deficiency and vision problems, is crucial because those patients need to take speech therapist and psychologist therapy as soon as possible because it improves their integration in social environment. Management is focused on treatment of symptoms (eg. hypertension, hypercalcemia), psychological and psychiatric evaluation and speech therapy.