Clinical Genetics; Pediatrics; Children and Adults; Dysmorphology; Pediatric Genetics
I specialize in the evaluation of children and adults with birth defects, developmental disability, autism and genetic disorders and/or syndromes. My goal as a clinical geneticist/dymorphologist is to make specific overall diagnoses in order to provide patients and their families with information regarding prognosis and recurrence risks, i.e., the likelihood that a trait or disorder present in one family member will occur again in other family members. In addition, I help coordinate patient care in conjunction with patients’ primary care physicians and other specialists. I also work closely with genetic counselors who evaluate patients for a variety of concerns and help to coordinate genetic diagnostic testing as indicated. As a UBMD physician working at the John R. Oishei Children‘s Hospital, I direct the Williams Syndrome Clinic and serve as the clinical director at the Craniofacial Center of Western New York. The Craniofacial Center provides comprehensive, interdisciplinary evaluation and management of individuals from birth through adulthood with congenital and acquired craniofacial abnormalities. Common diagnoses include clefts of the lip and/or palate, craniosynostosis and ear anomalies. We hold monthly conferences that focus both on teaching and communication amongst providers in an effort to optimize patient care. My particular interest in the care of individuals with Williams Syndrome led me to start a multidisciplinary Williams Syndrome clinic in 1994. This is one of only twelve such clinics in the country. The clinic is held monthly, and it is organized by patient age groups the format allows families to interact and share their experiences. Geneticists, genetic counselors, cardiologists, pediatric psychiatrists and pediatric dentists contribute their expertise at these clinics, and every patient sees a provider from each of these specialties. Additional evaluations for our Williams Syndrome patients are provided by other specialists such as ophthalmologists, nephrologists and neuropsychologists, depending on individual patient needs. I have coordinated a number of research studies in this patient population, and I have published extensively in this field. As a UB faculty member, I also teach residents and medical students during their month-long genetics elective.