Clinical Characteristics of Children with Williams Syndrome According to Age / 대한소아신경학회지

ABSTRACT

PURPOSE: Williams syndrome (WS) is an autosomal dominant genetic disorder, caused 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 symptoms 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 stature. Although overly sociable, they were not able to adapt to school life. Eight patients out of nine showed CHD. CONCLUSION: WS can be suspected when an infant primarily presents with hypotonia, 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.