The Campomelic Syndrome: Temporal Bone Histopathologic Features and Otolaryngologic Manifestations

Long‐term consequences of Sox9 depletion on inner ear development

“…Patients affected by this condition usually die after birth due to respiratory distress. However, patients that survived through adolescence and adulthood are often affected by sensorineural deafness, and in some rare cases exhibited malformations of the cochlear duct (Tokita et al, 1979; Houston et al, 1981; Savarirayan et al, 2003). Our finding using Xenopus are consistent with a critical role of Sox9 in inner ear formation, but also highlights some differences across species in the relative importance of Sox9 in the development of specific components of the inner ear.…”

“…In humans, heterozygous SOX9 mutations result in campomelic dysplasia (CD), a pathology characterized by dwarfism, craniofacial defects, bowing of the long bones and sex reversal (Foster et al, 1994; Wagner et al 1994; OMIM 114290). These symptoms are often associated with sensorineural deafness, and malformations of the inner ear canals (Tokita et al, 1979; Houston et al, 1981; Savarirayan et al, 2003). …”

Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories

“…The study of the bent bones in a case of campomelic dysplasia and a review of the literature suggest a repair process at the site of angulation. A theory that can explain most of the features of the disease is presented; it supposes a damage of the cartilage model at the midshaft, followed by a fracture of the thin bone collar in the earlier stage of ossification of the diaphysis.Following the description by Maroteaux et al [32] and Bianchine et al [6] of campomelic dysplasia, many cases have been reported of this usually lethal entity, in which multiple osseous defects (bending of tubular bones is the most striking) and malformations of other organs are associated [24,31,40,44,46,48,49].The genesis of this condition remains uncertain and both an exogenous factor acting in the mother in Fig. 1.…”

“…Following the description by Maroteaux et al [32] and Bianchine et al [6] of campomelic dysplasia, many cases have been reported of this usually lethal entity, in which multiple osseous defects (bending of tubular bones is the most striking) and malformations of other organs are associated [24,31,40,44,46,48,49].…”

Abnormalities of sexual differentiation in campomelic dwarfs

“…Polidori et al (1975), Shafai & Schwartz (1976). Camera 8 Centa (1976), Berndt et al (1976), Tokita et al (1979) stitution. Genital ambiguity in males may result from reduced production of or reduced responsiveness to dihydrotestosterone (Simpson 1976).…”