Williams 증후군 환아의 연령에 따른 임상적 특징

Clinical Characteristics of Children with Williams Syndrome According to Age

Purpose : Williams syndrome (WS) is an autosomal dominant genetic disorder, cau- sed by deletion at chromosome 7q11.23. Although WS is characterized by congenital heart disease (CHD), mental retardation, and distinctive facial dysmorphism, clinical features may vary according to a patient's age, making the diagnosis more difficult. We reviewed clinical, psychosocial, and behavioral developmental manifestations of WS patients according to age. Methods : We retrospectively studied nine children with WS from March 2003 to February 2009 at NHIC Ilsan Hospital Developmental Disorder Clinic. Patients were divided into three groups by age: infancy, preschool age and school age. Patients' facial dysmorphism, motor, speech, and cognitive development and associated symp- toms were analyzed. Results : Prominent clinical features of the infants group were feeding difficulty, hypotonia, constipation, sleep disturbance, hernia with facial features which were not characteristic. The preschool age group showed developmental delays, had very friendly personalities, and hyperacusis. Their typical facial features included long philtrum, prominent lips, and teeth malocclusion. The school age group showed mental retardation, learning disorders, and typical facial dysmorphism, as well as short sta- ture. Although overly sociable, they were not able to adapt to school life. Eight pa- tients out of nine showed CHD. Conclusion : WS can be suspected when an infant primarily presents with hypoto- nia, feeding difficulty, failure to thrive with CHD, and occasional hypercalcemia. When a patient in early childhood presents with delayed development with good verbal language ability and has hyperacusis, WS must be suspected. When an older or adolescent child has unique learning disabilities and has facial dysmorphism, short stature, and a loquacious personality, WS should also be suspected.