A tribute to our teacher, Dr. Judith Hall: a child with the trait of the Earl of Shrewsbury.
"Organized human endeavor can be lifted an order of magnitude through teaching if it is inspiring" (Editor, Am J Dis Child, 1972). The benevolent influence of Dr. Judy Hall's inspiring clinical teaching in the field of genetic syndromes and birth defects is illustrated through the eventual surgical remediation of conductive hearing loss for a 4-year-old girl with unusual knuckles. The fascinating history of this child's syndrome has been further explored in the descendents of the first Earl of Shrewsbury. The legends of his story and his role in the Hundred Years War were immortalized by William Shakespeare in his play Henry VI Part I, but neither Shakespeare nor historians documented that the Earl actually had abnormal finger joints. Heterozygous mutations in the human noggin gene (NOG) cause a spectrum of joint fusions, including this child's traits. On behalf of practitioners of medicine, pediatrics, clinical genetics, and dysmorphology, as well as research scientists in the many domains of genetics, thank you, Judy, for your inspiration, enthusiasm, and teaching.
Stephan
Mark J
MJ
Department of Pediatrics, Madigan Army Medical Center, Tacoma, Washington 98431, USA. mark.stephan1@us.army.mil
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002352:Carrier Proteins / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D034381:Hearing Loss / Q000473:pathology* / Q000601:surgery; D049673:History, 20th Century; D006801:Humans; D014034:Toes / Q000002:abnormalities*; D016896:Treatment Outcome; D000099176:Noggin Protein
D002352:Carrier Proteins; D000099176:Noggin Protein