Proximal Symphalangia and Stapes Ankylosis

Is the Conductive Hearing Loss in <b><i>NOG</i></b>-Related Symphalangism Spectrum Disorder Congenital?

“…In an adult SABTT patient with conductive hearing loss, histopathological findings demonstrated circumferentially calcified cartilage crossing the stapediovestibular joint space in place of the normal annular ligament [23]. Meanwhile, stapes footplate fixation due to a local bony fusion was identified with normal findings in the remaining part of the stapes annular ligament in a child with conductive hearing loss caused by SYM1 [24]. Variability of the ratio of cartilage to bone in the footplate was reported in human newborns [25].…”

Proximal symphalangism with ?coarse? facial appearance, mixed hearing loss, and chronic renal failure: New malformation syndrome?

“…Proximal symphalangism (OMIM #185800) involves synostosis of the proximal and middle phalanges. It is an autosomal dominant condition, and occasionally accompanied by conductive deafness resulting form stapes ankylosis [Cremers et al, 1985]. Proximal symphalangism is a component of various malformation syndromes, including Apert syndrome, Pfeiffer syndrome, Ventruto syndrome, Sorsby syndrome, fibrodysplasia ossificans progressiva, Lenz‐Majewski hyperostotic dwarfism, Pillary syndrome, symphalangism plus, multiple synostosis syndrome, aphalangia with hemivertebrae, diastrophic dysplasia, and Wildervanck syndrome.…”

Stapes Ankylosis in a Family with a Novel NOG Mutation: Otologic Features of the Facioaudiosymphalangism Syndrome

“…Vesell (6) was the first to describe a conductive hearing loss as an anomaly associated with proximal symphalangism. Cremers et al (7) reemphasized the association of deafness, as pointed out by Gorlin et al (1), Spoendlin (8), Baschek (9), and others. Cremers et al (7) also published the first report on the histology of the stapes.…”

“…Cremers et al (7) reemphasized the association of deafness, as pointed out by Gorlin et al (1), Spoendlin (8), Baschek (9), and others. Cremers et al (7) also published the first report on the histology of the stapes. An association with strabismus has also been recorded (6,7,10).…”