Otolaryngologic Features of Laurence‐Moon‐Bardet‐Biedl Syndrome

Abstract

The most common otolaryngologic features associated with LMBBS include SNHL, speech and language disorders, and oral and dental abnormalities. Early otolaryngologic, audiologic, speech pathology, and dental evaluation of these individuals is recommended. This is the first reported case of bifid epiglottis, a rare congenital laryngeal anomaly, found in association with LMBBS. Most patients with bifid epiglottis have additional congenital anomalies, most commonly polysyndactyly. Polysyndactyly is a feature of both LMBBS and bifid epiglottis and may be an early hallmark for the presence of other congenital anomalies.

Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome

“…In contrast to the cases reported previously [Urben and Baugh, 1999], only one of the subjects reported here with bifid epiglottis had symptoms referable to the larynx. None of our subjects reported symptoms of aspiration or phonation abnormalities, and only one patient reported dysphagia, which may not be related to the epiglottic cleft.…”

“…More than half of the PHS subjects (16 of 27) had a malformation of the epiglottis, most commonly a completely or partially bifid epiglottis. This frequency is remarkable because of the rarity of bifid epiglottis [Urben and Baugh, 1999]. The number of subjects with epiglottic clefting in this study is comparable with the number identified in the entire literature prior to this report.…”

“…Bifid epiglottis is not unique to PHS; it has also occurred in two patients with Bardet Biedl syndrome (BBS) [Urben and Baugh, 1999;Biesecker, Griffith and Ondrey, unpublished results], Bamforth-Lazarus syndrome (BLS) [Bamforth et al, 1989], and in patients with other anomalies that have not yet been categorized into distinct syndromes [for review, see Urben and Baugh, 1999]. However, current data suggest that bifid epiglottis is common in PHS and apparently uncommon in other syndromes.…”

Renal Failure due to Bardet-Biedl Syndrome

“…In addition to retinitis pigmentosa, strabismus may be observed [7]. Early otolaryngologic, audiologic, speech pathology, and dental evaluation of these individuals is recommended [8]. Bifid epiglottis [8] and disturbance of tooth formation have been reported.…”

“…Early otolaryngologic, audiologic, speech pathology, and dental evaluation of these individuals is recommended [8]. Bifid epiglottis [8] and disturbance of tooth formation have been reported. Hypertrophy of the interventricular septum and dilated cardiomyopathy, insulin-resistant diabetes mellitus, empty sella, clinodactyly, and congenital hepatic fibrosis can also be found.…”