Alpha 1 antitrypsin deficiency alleles are associated with joint dislocation and scoliosis in Williams syndrome

Colleen A. Morris, Ariel M. Pani, Carolyn B. Mervis, Cecilia M. Rios, Doris J. Kistler, and Ronald G. Gregg. 2011.

Abstract Elastin haploinsufficiency is responsible for a significant portion of the Williams syndrome (WS) phenotype including hoarse voice, supravalvar aortic stenosis (SVAS), hernias, diverticuli of bowel and bladder, soft skin, and joint abnormalities. All of the connective tissue signs and symptoms are variable in the WS population, but few factors other than age and gender are known to influence the phenotype.

Auditory Function and Hearing Loss in Children and Adults with Williams Syndrome: Cochlear Impairment in Individuals with Otherwise Normal Hearing

Jeffrey A. Marler, Jessica L. Sitcovsky, Carolyn B. Mervis, Doris J. Kistler, Frederic L. Wightman, 2010

Hearing loss is common in school-age individuals with Williams syndrome (WS) and extensive in adults. Prior studies with relatively small sample sizes suggest that hearing loss in WS has an early onset and may be progressive, yet the auditory phenotype and the scope of the hearing loss have not been adequately characterized.

Longitudinal Course of Anxiety in Children and Adolescents With Williams Syndrome

JANET WOODRUFF-BORDEN, DORIS J. KISTLER, DANIELLE R. HENDERSON, NICOLE A. CRAWFORD, AND CAROLYN B. MERVIS. 2010

The longitudinal course of anxiety disorders in 45 children and adolescents with Williams syndrome (WS) was examined. Children were ages 4–13 years at the initial assessment. To assess their child’s DSM-IV diagnoses, parents completed a structured diagnostic interview 3–9 times at intervals of at least 1 year.

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