The likelihood for surgical airway management is related to specific craniofacial diagnosis. The length of tracheal cannulation is greatest for infants and young children who manifest severe airway compromise, often because of nasal obstruction in combination with other anatomic factors. Early tracheotomy is advocated for these patients to promote optimal growth and development. Choanal atresia is often misdiagnosed in these infants; nasal obstruction is actually secondary to midface retrusion. Staged surgical interventions can allow eventual successful decannulation in nearly all cases of craniofacial syndromes.

The decision to perform tonsillectomy and adenoidectomy for treatment of pediatric obstructive sleep apnea syndrome is often made on a clinical basis without formal polysomnography. To examine the accuracy of the clinical diagnosis of pediatric obstructive sleep apnea syndrome, we prospectively evaluated 30 children with obstructive symptoms by a standardized history, physical examination, and review of a tape recording of breathing during sleep. On the basis of this clinical evaluation, patients were divided into three predictive groups: (1) definite obstructive sleep apnea syndrome, (2) possible obstructive sleep apnea syndrome, and (3) unlikely to have obstructive sleep apnea syndrome. Nocturnal polysomnography was used to determine the presence or absence of true sleep apnea. Ten of 18 (55.6%) patients predicted clinically to have definite obstructive sleep apnea syndrome had positive nocturnal polysomnographies. Two of six (33.3%) patients predicted to have possible obstructive sleep apnea syndrome had positive nocturnal polysomnographies. One of six (16.7%) patients predicted to be unlikely to have obstructive sleep apnea syndrome had a positive nocturnal polysomnography. Six nocturnal polysomnographies negative by conventional criteria were suspicious for apnea, but considering these positive for obstructive sleep apnea syndrome did not improve the specificity of the clinical prediction. Our results show that clinical assessment of obstructive sleep apnea syndrome in children is sensitive (92.3%) but not specific (29.4%) for making the diagnosis of obstructive sleep apnea syndrome as compared with nocturnal polysomnography and may contribute to the decision to obtain nocturnal polysomnography in specific circumstances.

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A retrospective study was undertaken to answer the following questions: Is the sensorineural hearing loss (SNHL) in Turner syndrome progressive? Can the occurrence of hearing loss be explained by the parental origin of the intact X chromosome? Twenty-four individuals recruited through the Turner Syndrome Society completed a questionnaire and submitted sufficient medical records to determine their otologic status. The majority (21/24) have had problematic otitis media (OM), and two thirds (16/24) have SNHL. In seven of the Turner subjects (age range: 12 to 51 years), gradual progressive SNHL began in late childhood or early adulthood. Molecular techniques showed no correlation between parental origin of the retained X chromosome and hearing status in 17 Turner subjects and at least one of their parents. SNHL and frequent OM appear to be independent variables that are both present in Turner syndrome. It is postulated that the presence of unpaired genes on the X chromosome may account for hearing loss and other phenotypic abnormalities seen in this syndrome.

Twenty-two phenotypic females with Turner syndrome underwent prospective otologic evaluation including a standard history, physical examination, audiogram, and tympanogram. Eight of these patients had computed tomography of the temporal bones. Eighty-two percent of the patients had a history of chronic or recurrent ear infections. Eleven patients (50%) had previous myringotomy and tube placement and 4 (16%) had undergone tympanoplasty or tympanomastoidectomy for sequelae of otitis media. Ten patients (45%) had middle ear effusions evident on examination. Sixteen patients (73%) had hearing loss in at least one ear at the time of examination. Sensorineural losses were evident in 37% of patients. No malformations of the otic capsule were noted on computed tomography. The high prevalence of both hearing loss and otitis media in Turner syndrome warrants otologic and audiologic assessment of patients with this chromosomal anomaly.