An autosomal dominant inherited syndrome with congenital stapes ankylosis

Abstract

A newly recognized autosomal dominant inherited syndrome associated with congenital conductive deafness, hyperopia, broad thumbs, broad first toes, short distal phalanges, and syndactyly is reported. The conductive loss was the result of congenital stapes ankylosis and, in two cases, was associated with ankylosis of the short process of the incus in the fossa incudis. Stapedectomy improved hearing in these patients. Fused cervical vertebrate are also an associated feature.

Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome

“…Multiple genes have been identified for both syndromic [Baldwin et al, 1992;Weil et al, 1997;Li et al, 1998] and nonsyndromic deafness [Keisell et al, 1997]. Teunissen and Cremers [1990] described five persons with an autosomal dominant syndrome of conductive hearing loss due to congenital stapes ankylosis, hyperopia, broad thumbs, broad first toes, short distal phalanges, and syndactyly of the second and third toes. Two of their patients had cervical vertebral fusion of C-6 and C-7 and another relative had fifth-finger symphalangism.…”

“…They compared the findings in their patients with those of the patients of Teunissen and Cremers [1990] and those with the facio-audiosymphalangism and proximal symphalangism syndromes. A high degree of hyperopia was the only distinguishing criterion between Teunissen-Cremers syndrome and the facio-audio-symphalangism syndrome.…”

Ear and Further Anatomic Anomalies in Children Undergoing Stapedotomy

“…Finally, stapes fixation has already been described as part of the syndromes [12][13][14][15] . We found 2 children with additional skeletal and further systemic anatomic anomalies.…”

“…Such abnormalities have been related to the NOG gene, coding the noggin protein. The NOG gene is essential in regulating normal bone development and its mutations are clinically expressed as kyphoscoliosis, anomalies of the fingers and the face, stapes fixation and further non-skeletal related dysplasias [12][13][14][15] . Most of these findings can easily be revealed by a basic, clinical, pediatric examination.…”

“…Stapes ankylosis, particularly, is the most common among all isolated congenital ossicular anoma-Pediatric Stapes Fixation and Anatomic Anomalies ORL 2011;73:76-81 77 lies, representing 20-35% of these malformations [9][10][11] . Nevertheless, sporadic referrals connected congenital stapes ankylosis with further syndromes, involving kyphoscoliosis, finger malformations, coarse facial characteristics, mental retardation and gastrointestinal malformations [12][13][14][15] . All these subtle anatomic variations make a universally accepted diagnostic and therapeutic approach in children suspected of stapes fixation even more difficult.…”