Apert syndrome and hearing loss with ear anomalies: a case report and literature review

Hearing loss in syndromic craniosynostoses: Otologic manifestations and clinical findings

“…2 and 3) [16,17]. It was not until 1962 that bilateral progressive conductive or mixed hearing loss was first described in this syndrome [18]. The largest clinical series collectively analyzed audiologic and otologic findings in 125 patients; 100/125 of these patients (80%) have hearing loss that is conductive in most cases (93), mixed (five cases) and sensorineural in the minority of cases (two) [19][20][21].…”

“…Almost all children with Apert syndrome suffer from otitis media with effusion, a well-known cause of conductive hearing loss [23]. Other contributing factors to the CHL in Apert syndrome include middle ear pathologies, such as atelectasis and adhesions of the tympanic membrane, and ossicular fixation and erosion, just to name a few (Table 3) [18,19,21,24,25]. In one series, an adult with Apert syndrome and bilateral mixed hearing loss due to congenital fixation of the stapes had a marked improvement in her hearing with stapes mobilization, while a child with bilateral conductive hearing loss due to jugular bulb dehiscence, fixed incus and congenitally fixed stapes did not have much improvement in hearing following incus removal and homograft malleus insertion/ inner ear reconstruction [24].…”

Audiological Profile of Children and Young Adults With Syndromic and Complex Craniosynostosis

“…This syndrome is characterized by craniosynostosis of coronal sutures, midface hypoplasia, obstructive sleep apnea, complex syndactyly of hands and feet, and mental retardation. Studies 7,9,10,18,19 of patients with Apert syndrome describe a high incidence of conductive hearing loss, predominantly caused by recurrent otitis media with effu- sion and congenital stapes fixation. Superior semicircular channel dehiscence has been described in Apert syndrome as a cause of conductive hearing loss with larger air-bone gaps at lower frequencies.…”

Audiologic Findings in Saethre-Chotzen Syndrome

“…H earing loss has been reported in most types of syndromic craniosynostosis, including Apert syndrome, [1][2][3][4] Pfeiffer syndrome, 5 Muenke syndrome, 6,7 Crouzon syndrome, 8,9 and others. 9 -14 The type and extent of the auditory deficit differs among these disorders.…”

“…9 -14 The type and extent of the auditory deficit differs among these disorders. For example, studies have demonstrated that the majority of patients with Apert syndrome (FGFR2 mutation) develop permanent low-frequency conductive hearing loss as a result of chronic otitis media, [1][2][3][4]15,16 whereas sensorineural hearing loss in this condition is quite rare. In contrast, nearly all patients with Muenke syndrome (Pro250Arg mutation of FGFR3) demonstrate low-frequency sensorineural hearing loss, 6,7 which is presumed to be caused by abnormal patterning of auditory sensory epithelial cells in the organ of Corti.…”