A tribute to our teacher, Dr. Judith Hall: A child with the trait of the Earl of Shrewsbury

Abstract

"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.

A comprehensive review of reported heritable noggin‐associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term:NOG‐related‐symphalangism spectrum disorder (NOG‐SSD)

“…Surgical exploration of the middle ear is necessary to evaluate the mobility of the ossicular chain by palpation. Fixation of the short process of the incus, elongation of the long process of the incus, and fixation of the malleoincudal joint or other ossicular articulations may also be observed [Ensink et al, 1999; Stephan, 2006; Thomeer et al, 2011; Weekamp et al, 2005]. Previous histological reports on resected stapes have noted an abnormal bony bridge between the crura and footplate, local bony fusion of the stapes footplate with thickened bone in the oval window niche, and abnormal ossification in the vestibular area of the footplate with calcification of the annular ligament [Declau et al, 2001].…”

Foot anomalies and proximal symphalangism

“…Moreover where surgery has been attempted, the results have been unsatisfactory, both in terms of cosmesis and function (Letts et al,1999). Audiological assessment is also indicated because of the associated ossification of the articulations in the auditory ossicular chain and the feasibility of surgical correction (Gaal et al,1988; Stephan,2006).…”

“…This reflects the likely underlying cause—as being due to a syndrome involving symphalangism and multiple foot coalitions. The feet of our patient were therefore treated with a modified Kite's method (as opposed to the Ponseti regime (Ponseti,1996) which is dependent on the absence of coalitions) with serial casting and pressure under the calcaneo‐cuboid joint (Halanski et al,2010) to bring the foot into a more pronated position. Symphalangism‐coalition syndromes are associated with conductive deafness due to fusion of the auditory ossicular chain articulations (Gaal et al,1988; Stephan,2006). Audiological assessment is important.…”

“…Symphalangism‐coalition syndromes are associated with conductive deafness due to fusion of the auditory ossicular chain articulations (Gaal et al,1988; Stephan,2006). Audiological assessment is important.…”