Sometimes, pediatricians need to do some sleuthing to come up with a diagnosis. And sometimes, that diagnosis is a genetic disorder.
Hone your skills in recognizing minor anomalies that signal the presence of a genetic disorder during a session titled “If Sherlock Holmes Were a Pediatrician: Subtle Clues to Genetic Diagnosis.” The session will be held from 2-3:30 p.m. Saturday (A1115) and again from 2-3:30 p.m. Sunday (A2127) in Room 303 of Moscone South.
“Minor anomalies are uncommon structural variants among humans that have little or no cosmetic or functional significance as isolated findings, but which can serve as external markers of occult major anomalies,” said pediatric geneticist H. Eugene Hoyme, M.D., FACMG, FAAP, who will lead the session. “They include findings such as ear tags or pits; midline lumbar tags, sinuses or other unusual cutaneous findings; altered palmar creases; deep dimples over joints, etc.”
Dr. Hoyme, a member of the AAP Section on Genetics and Birth Defects, will show photographs of minor anomalies and use them as a starting point for having the audience assess the workup, differential diagnoses and genetic counseling of affected children.
“We will discuss syndromes associated with hearing loss, neuromuscular disorders, spinal dysraphism and arthrogryposes, among others. Although many of these conditions are uncommon, taken as a whole they constitute a significant portion of pediatric practice,” said Dr. Hoyme, professor of pediatrics and medicine and senior adviser to the Center for Applied Genetics and Genomic Medicine, the University of Arizona College of Medicine.
If the pediatrician suspects a genetic syndrome, the next step would be to order genetic diagnostic testing, if he or she feels comfortable, or refer the patient to a clinical geneticist for evaluation and potential testing.
“Genetic testing is highly specialized, and its interpretation can be complex,” Dr. Hoyme said. “Testing is best coordinated by a clinical geneticist or genetic counselor after the patient has undergone a comprehensive clinical evaluation.”
Dr. Hoyme became interested in genetics while in medical school at the University of Chicago.
“I spent time in the laboratory of Dr. Janet Rowley, a famous geneticist who discovered the origin of the Philadelphia chromosome as an important marker of chronic myelogenous leukemia,” he said.
His interests were solidified while he was a pediatric resident at the University of California San Diego School of Medicine.
“There, I worked with Dr. Kenneth Lyons Jones, the investigator who described the fetal alcohol syndrome,” he said. “I stayed on to train as a fellow in clinical genetics and dysmorphology with Dr. Jones as my mentor.”
For more coverage of the AAP National Conference & Exhibition visit http://www.aappublications.org/collection/cme
