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Otolaryngologic Manifestations of Achondroplasia

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Otolaryngologic Manifestations of Achondroplasia ORIGINAL ARTICLE Otolaryngologic Manifestations of Achondroplasia William O. Collins, MD; Sukgi S. Choi, MD Objective: To describe the common otolaryngologic going tympanostomy tube insertion. Nine patients (41%) manifestations in patients with achondroplasia. had adenotonsillar hypertrophy, 6 of whom had poly- somnogram-documented obstructive sleep apnea. Seven Design: Retrospective review. patients underwent adenotonsillectomy (TA). Two pa- tients had significant residual postoperative obstructive Setting: Tertiary care children’s hospital. sleep apnea, and 1 patient died from acute respiratory distress syndrome following TA. All patients had preop- Patients: Twenty-two patients with achondroplasia, who erative neurosurgical evaluation for foramen magnum ste- were treated from 1994 to 2005, with a focus on otolar- nosis, with 11 (50%) requiring decompression. No other yngologic diagnoses. airway or laryngeal diagnoses were seen. Main Outcome Measures: Descriptive statistics of com- Conclusion: Patients with achondroplasia often pre- mon otolaryngologic diagnoses in patients with achon- sent with common diagnoses such as otitis media and ad- droplasia. enotonsillar hypertrophy, and familiarity with the con- Results: Of the 22 patients, 15 (68%) received an oto- dition and its common otolaryngologic manifestations logic diagnosis, including 6 with recurrent otitis media improves the likelihood of successful patient care. and 5 with otitis media with effusion, and 11 patients (50%) underwent an otologic procedure, with 10 under- Arch Otolaryngol Head Neck Surg. 2007;133:237-244 REOPERATIVE NEUROSURGI- gene encoding for fibroblast growth fac- cal evaluation for foramen tor receptor 3 (FGFR3).2 Faulty endochon- magnum stenosis is essen- dral ossification results3 and produces the tial. Patients undergoing ad- characteristic phenotype. Patients with enotonsillectomy (TA) for achondroplasia are recognized by their Pobstructive sleep apnea (OSA) may be at short stature, with short proximal limb seg- a higher risk of postoperative respiratory ments, referred to as rhizomelia. In the complications and require close monitor- head and neck region, they often display ing, often in the intensive care unit. These macrocephaly and a prominent forehead. patients may also benefit from postopera- Midface hypoplasia and a depressed na- tive polysomnography (PSG) because they sal bridge further characterize their ap- may have significant residual OSA follow- pearance and can contribute to nasal and ing surgery. upper airway obstruction.1 As the most common of the more than As a result of these anatomic charac- 200 skeletal dysplasias, with an inci- teristics, patients with achondroplasia are dence between 1:15 000 and 1:40 000 live at risk for several complications result- Author Affiliations: births,1 achondroplasia is a diagnosis that ing from their disease. The combination Department of pediatric otolaryngologists will likely en- of narrow nasal cavities, midface hypo- Otolaryngology–Head & Neck counter in clinical practice. Although pa- plasia, and hypotonia predisposes them to Surgery, University of Florida tients may present with common otolar- upper airway obstruction and OSA, which College of Medicine, Gainesville yngologic conditions such as otitis media can be exacerbated by concomitant ad- (Dr Collins); and Department (OM) and adenotonsillar hypertrophy, enotonsillar hypertrophy. Foramen mag- of Otolaryngology–Head & Neck Surgery, Children’s their treatment and outcomes can differ num stenosis requiring eventual surgery National Medical Center, significantly. is common in patients with achondropla- George Washington University The genetic defect for achondroplasia sia, with a cumulative rate of 16% by adult- School of Medicine, has been identified as an arginine for gly- hood,4 and can contribute to cervicome- Washington, DC (Dr Choi). cine substitution in amino acid 380 in the dullary compression and central apneas (REPRINTED) ARCH OTOLARYNGOL HEAD NECK SURG/ VOL 133, MAR 2007 WWW.ARCHOTO.COM 237 ©2007 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/26/2021 Table 1. Summary of Otolaryngologic Diagnoses Patient No./Sex Ear Nose Throat Comment 1/F RAOM, CHL AH, RARS None None 2/M RAOM RARS None None 3/M None AR, AH, ARS ATH, OSA Persistent OSA 4/M RAOM Nasal obstruction None Persistent central apneas 5/F COME None ATH, OSA No postoperative PSG 6/M AOM ARS, orbital cellulitis ATH, OSA None 7/M RAOM None Snoring None 8/F None None None Respiratory arrest 9/F None AR None None 10/F OME, perforation Rhinorrhea ATH None 11/F None None None None 12/M COME, RAOM, CHL None ATH, OSA Persistent OSA 13/M None Multiple URI ATH None 14/M AOM Nasal obstruction ATH, OSA No postoperative PSG 15/M COME None ATH, OSA Postoperative death 16/M RAOM None None None 17/M None None None None 18/M None None None None 19/F COME, CHL AH ATH None 20/M COME None None None 21/F OME, CHL None None None 22/M Perforation None None Residual perforation Abbreviations: AH, adenoid hypertrophy; AOM, acute otitis media; AR, allergic rhinitis; ARS, acute rhinosinusitis; ATH, adenotonsillar hypertrophy; CHL, conductive hearing loss; COME, chronic otitis media with effusion; OME, otitis media with effusion; OSA, obstructive sleep apnea; PSG, polysomnogram; RAOM, recurrent acute otitis media; RARS, recurrent acute rhinosinusitis; URI, upper respiratory tract infection. with or without hydrocephalus. In severe cases, sudden nologic, pharyngeal/upper airway, and cervical. Because of death5,6 has been reported. Lumbar spinal stenosis can significant overlap in the rhinologic and pharyngeal catego- also lead to neurologic deficits later in life, such as leg ries, they were eventually condensed into a single upper air- claudication and incontinence. There can often be a char- way category. No cervical diagnoses were identified, and this acteristic thoracic deformity, leading to restrictive lung category was eliminated from further review. With each specific diagnosis, attempts were made to iden- disease, and further compounding any upper airway dif- tify and record the age and timing of diagnosis, diagnostic stud- ficulties. ies performed, medical and surgical therapies instituted, out- 7 Prior studies have described either otologic disease comes, and complications. Descriptive statistics were used or sleep-related breathing disorder8-10 in patients with because of the small sample size. achondroplasia. To our knowledge, no previous articles have attempted to comprehensively describe the otolar- RESULTS yngologic manifestations of achondroplasia in a specific patient population. Fifty-nine patients were identified by a search for the ICD-9 code 756.4. On further review, 22 patients were diag- METHODS nosed as having achondroplasia and were included for further detailed review. All of the excluded patients had Following approval by our institutional review board, the elec- diagnoses of skeletal dysplasias other than achondropla- tronic and paper medical records of all patients with achon- sia. Of the 22 patients, 14 were male and 8 were female. droplasia receiving care at a tertiary care pediatric hospital from 1994 to 2005 were reviewed. These patients were identified by When screening for otologic diagnoses, 15 (68%) of a search for International Classification of Diseases, Ninth Revi- the 22 patients had some otologic pathologic condition sion (ICD-9) code 756.4 (chondrodystrophies). Only those pa- documented (Table 1). Six patients had recurrent acute tients formally labeled with the diagnosis of achondroplasia by OM, while 5 patients were diagnosed as having chronic a pediatric or pediatric subspecialty service were included for OM with effusion, indicating middle ear effusions per- review in this project. Patients identified as having other skel- sisting 3 months or longer. One patient had both diag- etal dysplasias were excluded. noses. Two patients were also diagnosed as having chronic Medical records for each patient with achondroplasia were tympanic membrane perforations. No patients were di- reviewed in their entirety, with particular attention paid to any agnosed as having cholesteatoma, chronic suppurative otolaryngologic diagnoses or head and neck manifestations of OM, mastoiditis, or other sequelae of OM. the disease. A patient was recorded as having the diagnosis if it was listed in any medical note, progress note, clinic letter, Audiograms were available for review in 7 (47%) of operative report, or other formal documentation of a patient 15 patients with otologic disease (Table 2). A cumula- encounter with a physician or physician extender. The diag- tive total of 19 audiograms were performed in 7 pa- nosis was made on clinical and radiographic grounds. Otolar- tients, with 6 patients having multiple audiograms. Con- yngologic diagnoses were initially categorized as otologic, rhi- ductive hearing loss (CHL) predominated and was (REPRINTED) ARCH OTOLARYNGOL HEAD NECK SURG/ VOL 133, MAR 2007 WWW.ARCHOTO.COM 238 ©2007 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/26/2021 Table 2. Audiometric Findings Right Right Left Left Patient/Age Tympanogram Hearing Tympanogram Hearing Comment Patient 1 2y3mo NA NA NA CHL None 11 y 10 mo NA NA NA CHL None Patient 5 5y4mo B Mild CHL B Mild CHL BMT at age5y5mo 5y5mo Patent tube Mild low-frequency CHL Patent tube Normal None 5 y 11 mo Patent tube Normal Patent tube Normal None Patient 12 3y0mo NA CHL NA CHL BMTatage3y3mo
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