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Autori: T. Marcovici, I. Sabau, I. Simedrea, M. Puiu, P. Lesovici, E. Gamaniuc;
Editorial: nature publishing group, European journal of human genetics, Volume 15 Supplement 1 June 2007, p.95, 2007.
Williams syndrome is a rare genetic disorder characterized by mild mental retardation, distinctive facial appearance, abnormalities in calcium balance and blood vessel disease. It is present at birth and affects males and females equally.The syndrome is caused by a deletion in the locus of the elastin gene localized at 7q11.23.
We present a 24 months old male admitted in our clinic for fever and vomiting. He is the second child of a healthy couple, the pregnancy was not followed-up and the birth weight was low. Feeding problems and slow weight gain were noticed.
By clinical examination we noticed failure to thrive (weight of 9400 g), short stature, characteristic facial features (microcephaly, broad forehead, short palpebral fisures, left eye strabismus, periorbital fullness, flattened nasal bridge, long philtrum, wide mouth with full lips, low placed proeminent ears). There were present musculoskeletal anomalies (hyperextensible joints and lumbar scoliosis), anxiety, a friendly behaviour and mild delay in intellectual, motor and language skills. Calcium blood level was elevated and echocardiography was normal.
Conclusions: We diagnosed the syndrome by clinical features and hypercalcemia. Variable expression in the phenotype makes the absence of one of the main anomalies possible. FISH analysis may certify the diagnosis.
The child requires a comprehensive multidisciplinary approach to his care and periodic cardiovascular evaluations.
Cuvinte cheie: Williams // Williams