Duplication of the mandible in Klippel–Feil syndrome

Kocaaslan, Nihal Durmus; Satır, Tevfik; Çelebïler, Özhan; Numanoğlu, Ayhan

doi:10.1016/j.bjps.2012.12.017

Cited by 9 publications

(3 citation statements)

References 2 publications

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“…Cervical spine instability, hypermobility, and symptomatic stenosis at the interspaces between the fused segments may develop. There have also been multiple reports of mandibular abnormalities in patients with KFS including retrognathia, 33 duplication of the mandibular rami, [34][35][36] and extra-articular ankylosis of the temporomandibular joint. 37 Progressive cervical instability or neurological compromise attributable to cervical instability is usually managed with surgical stabilization.…”

Section: Discussionmentioning

confidence: 99%

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Otolaryngologic Manifestations of Klippel-Feil Syndrome in Children

Kenna

Irace

Strychowsky

et al. 2018

JAMA Otolaryngol Head Neck Surg

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IMPORTANCE Children with Klippel-Feil syndrome (KFS), characterized principally by abnormal fusion of 2 or more cervical vertebrae, may have many additional congenital anomalies. The overall prevalence of otolaryngologic manifestations among patients with KFS has not been previously characterized. OBJECTIVE To define the otolaryngologic diagnoses made and procedures performed in 95 patients with KFS, which, to our knowledge, is the largest series of this challenging patient population published to date. DESIGN, SETTING, AND PARTICIPANTS For this retrospective review, all patients with KFS who underwent otolaryngology consultation at our institution over a 26-year period (January 1989 to December 2015) were included. Patients were identified using International Classification of Diseases, Ninth Revision (ICD-9) codes and were confirmed through individual medical record review. Relevant otolaryngologic diagnoses and procedures were extracted using ICD-9 and Current Procedural Terminology codes, respectively. Selected demographics included age, sex, number of clinic visits, and number of procedures. MAIN OUTCOMES AND MEASURESThe primary outcomes were the otolaryngologic diagnoses and procedures associated with the KFS patient population; the secondary outcome was Cormack-Lehane classification documented during airway procedures. RESULTSOverall, 95 patients with KFS were included in this study (55 males [58%] and 40 females [42%]); mean (range) age at time of presentation to the otorhinolaryngology clinic was 5.8 (birth-23.0) years. Each patient with KFS averaged 8 visits to the otorhinolaryngology office and 5 otolaryngologic diagnoses. The most common diagnosis was conductive hearing loss (n = 49 [52%]), followed by sensorineural hearing loss (n = 38 [40%]), and dysphagia (n = 37 [39%]). Sixty-two (65%) patients underwent otolaryngologic procedures, with 44 (46%) undergoing multiple procedures. The most common procedure was tympanostomy tube placement (n = 36 [38%]), followed by office flexible endoscopy (n = 23 [24%]). Twelve of the 20 patients who underwent direct laryngoscopy had documented Cormack-Lehane classification; 5 of 12 patients (42%) had a compromised view (grade 2, 3, or 4) of the larynx. Three patients required tracheotomies at this institution for airway stabilization purposes; each had severe upper airway obstruction leading to respiratory failure. CONCLUSIONS AND RELEVANCE Patients with KFS require consultation for a variety of otolaryngologic conditions. Among these, hearing loss is the most common, but airway issues related to cervical spine fusion are the most challenging. Formulating an appropriate care plan in advance is paramount, even for routine otolaryngology procedures.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Otolaryngologic Manifestations of Klippel-Feil Syndrome in Children

Kenna

Irace

Strychowsky

et al. 2018

JAMA Otolaryngol Head Neck Surg

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“…43 Two other cases have been published of supernumerary organs including bone and teeth, bilateral, located in the infratemporal fossa without connection neither to the malar nor to the mandible in this case in which there is no cleft associated the diagnosis was associated in a spectrum of Klippel-Feil syndrome. 50,51 Those facts suggest a specific genetic implication.…”

Section: Some Hypotheses To Explain Cleft 6 Featuresmentioning

confidence: 96%

Tessier's Cleft Number 6 Revisited: A Series of 26 new Cases and Literature Review of 44

Pellerin

Tonello

Freitas

et al. 2022

The Cleft Palate Craniofacial Journal

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Objective To fix a gray zone left in Tessier's classification of rare clefts with cleft 6 and to give a more comprehensive description of cleft 6 anatomy. Design The material used for the research was a series of 26 clinical cases of patients with assessed cleft 6 and 44 cases found out of a literature review with enough data to be useful. The 70 cases were cross-examined by the authors. Study Setting The authors are senior craniofacial surgeons working in high-case load department from university centers where the patients are documented and receive primary as well as secondary treatment and follow-up. Patients The patients were selected out of the series of craniofacial deformities taken care of by the authors’ department as rare clefts. Main Outcome We describe the full spectrum of cleft 6 as an autonomous entity that could present itself in three subtypes: 6a is the most proximal and could be associated with cleft 8. The subtype 6b is medial toward the zygomatic arch and frequently associated with a bone and teeth appendage (frequently described as a “maxillary duplication”). The subtype 6C goes toward the external ear between the helix crus and the auditory meatus. Conclusions The Tessier's opinion is that Treacher Collins syndrome was the association of clefts 6, 7, and 8 and is no longer sustainable in the light of modern genetics. Most of the cleft 6 are misdiagnosed in the literature.

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