Cleft Lip/Palate Flashcards
A 7-year-old patient with a history of submucous cleft palate and persistent severe velopharyngeal insufficiency after Furlow palatoplasty undergoes video nasoendoscopy. An abnormal closure pattern is observed, with excellent movement of the velum and Passavant’s ridge but poor lateral wall motion. On the basis of these findings, which of the following is the most appropriate treatment for this patient’s velopharyngeal insufficiency?
A) Inferiorly based pharyngeal flap
B) Palatal lift appliance
C) Speech therapy
D) Sphincter pharyngoplasty
E) Superiorly based pharyngeal flap
The correct response is Option D.
With a “bow tie” pattern seen on the nasoendoscopy, the patient is an ideal candidate for sphincter pharyngoplasty, which will bring the lateral walls in more centrally, so the velum and pharynx can close off the velopharyngeal port.
Pharyngeal flap surgery is ideal for patients who have a large central gap or sagittal closure pattern caused by palatal hypotonia or shortened palatal length. Palatal soft tissue augmentation is ideal for patients with a very small central gap following adenoidectomy. A palatal lift appliance is typically used in patients with adequate palatal length, but inadequate motor function. The patient described in this scenario has excellent motor function of the velum, but poor lateral wall motion.
Speech therapy does not correct the anatomic deficiency in this patient population.
References
Glade RS, Deal R. Diagnosis and Treatment of Velopharyngeal Dysfunction. Oral Maxillofac Surg Clin North Am. 2016 May;28(2):181-188.
Naran S, Ford M, Losee J. What’s new in cleft palate and velopharyngeal dysfunction management? Plast Reconstr Surg. 2017 Jun;139(6):1343e-1355e.
A 15-year-old girl with a history of a bilateral cleft lip and palate is evaluated because she is concerned about her nasal-sounding speech. On examination, she has a wide and poorly projected nasal tip, a bilateral cleft lip scar with a whistle deformity, mid face hypoplasia, persistent alveolar clefts with a protrusive premaxilla, a large fistula at the incisive foramen, and a straight line scar on the palate. Which of the following is the most appropriate first step in addressing her multiple cleft-related problems?
A) Alveolar bone graft
B) Fistula closure with premaxillary setback
C) Lip revision
D) Maxillary advancement
E) Rhinoplasty
Patients with cleft palate who are late-presenting and have undergone previous procedures that were performed out of the preferred sequence can be especially challenging cases. This patient, with a bilateral cleft lip and palate, has only had her lip and palate repaired. Yet she has significant speech, skeletal, and soft tissue sequelae of her cleft including unrepaired anterior hard palate fistulae and alveolar fistulae, inadequate central lip fullness (whistle deformity), a wide and poorly projected nose, mid face hypoplasia, and velopharyngeal insufficiency.
Sequencing procedures to address these issues is crucial to having favorable surgical outcomes. Addressing speech is the patient’s main concern and should be performed first. This includes closing of the oronasal fistula along with a premaxillary setback followed by a pharyngoplasty, if necessary. Alveolar bone grafts should be performed to stabilize the maxillary dental arch and minimize tooth injury. This should be followed by a lip revision to establish the lip-tooth relations prior to undergoing Le Fort I advancement. Finally, a rhinoplasty can be performed once the maxilla has been advanced.
References
Murthy J. Management of cleft lip and palate in adults. Indian J Plast Surg. 2009 Oct;42(Suppl):S116–S122.
Shi B, Losee JE. The impact of cleft lip and palate repair on maxillofacial growth. Int J Oral Sci. 2015 Mar;7(1):14–17.
A 17-year-old girl with a history of bilateral cleft lip/palate presents for evaluation. She underwent lip and palate repair as a child, and alveolar bone grafting in mixed dentition. She has hypernasal speech. Physical examination shows severe mid face hypoplasia with 12 mm of negative overjet. On cephalometric analysis, SNA angle is 73 degrees (N 80–82), and SNB angle is 79 degrees (N 79–81). She is concerned about her appearance and her speech. Which of the following is the best initial option to address the patient’s concerns?
A) Bilateral sagittal split osteotomy with mandibular setback
B) Combined Le Fort I advancement and mandibular advancement
C) Maxillary distraction
D) Pharyngoplasty
E) Speech therapy
This patient has severe maxillary retrusion and mid face hypoplasia in the setting of significant velopharyngeal deficiency. These two issues are at odds with one another. Advancing her mid face with a standard Le Fort I will worsen her velopharyngeal dysfunction (VPD), while addressing her VPD with a pharyngeal flap will make advancing her maxilla challenging. Only anterior segmental maxillary distraction will maintain her current velopharyngeal anatomy but allow for improved mid face projection. A pharyngoplasty can be performed relatively easily at a later date or as a secondary procedure. Performing a mandibular setback is not appropriate because she has normal mandibular projection.
References
Chua HD, Whitehill TL, Samman N, Cheung LK. Maxillary distraction versus orthognathic surgery in cleft lip and palate patients: effects on speech and velopharyngeal function. Int J Oral Maxillofac Surg. 2010 Jul;39(7):633-640.
Li H, Dai J, Si J, et al. Anterior maxillary segmental distraction in the treatment of severe maxillary hypoplasia secondary to cleft lip and palate. Int J Clin Exp Med. 2015 Sep 15;8(9):16022-16028.
Lin X, Zhou N, Huang X, Song S, Li H. Anterior maxillary segmental distraction osteogenesis for treatment of maxillary hypoplasia in patients with repaired cleft palate. J Craniofac Surg. 2018 Jul;29(5):e480-e484.
A newborn presents with an asymmetric bilateral cleft lip-nose-palate; the right side is incomplete and the left side is complete. A photograph is shown. Which of the following sequences of repair is most likely to provide the optimal outcome?
A) One-stage repair of the bilateral cleft lip
B) Repair cleft palate at the initial surgery
C) Repair the complete side cleft lip first, then stage incomplete side cleft lip at a later surgery
D) Repair the incomplete side cleft lip first, then stage complete side cleft lip at a later surgery
E) Simultaneous repair of cleft lip and cleft palate
The correct response is Option A.
Bilateral cleft lip repair is more commonly symmetric and is usually repaired as a one-stage repair around 3 to 6 months of age.
Asymmetrical bilateral cleft lip repair can be done in one stage or two stages, and the sequencing has been controversial. However, two recent studies show convincing evidence that even for asymmetrical bilateral cleft lip repairs, a one-stage repair leads to overall better symmetry and cleft lip repair outcomes. Therefore, a two-stage bilateral cleft lip repair is incorrect.
Cleft palate repair is typically performed closer to 9 to 12 months of age, therefore, cleft palate repairs at 6 to 9 months of age are less typical and irrelevant, as the two-stage repair is considered not optimal for this asymmetric bilateral cleft lip scenario.
References
Bezuhly M, Fisher DM. Single-stage repair of asymmetrical bilateral cleft lip with contralateral lesser form defects. Plast Reconstr Surg. 2012 Mar;129(3):751-757.
Chung KH, Lo LJ. One-stage versus two-stage repair of asymmetric bilateral cleft lip: a 20-year retrospective study of clinical outcome. Plast Reconstr Surg. 2018 May;141(5):1215-1224.
Lin AY, Losee JE. Pediatric plastic surgery. In: Zitelli BJ, McIntire S, Nowalk AJ, eds. Atlas of Pediatric Physical Diagnosis. 6th ed. Philadelphia, PA: Elsevier; 2012.
A 16-year-old girl, who was born with a complete unilateral cleft of the lip, alveolus, and palate, is missing the lateral incisor within the cleft. After secondary bone grafting of the alveolar cleft, which of the following prosthetic treatments is the best option for dental restoration in this patient?
A) Nasoalveolar molding
B) Osseointegrated implant and crown
C) Palatal obturator
D) Removable partial denture
E) Three-unit fixed partial denture
The correct response is Option B.
Patients with cleft lip and palate frequently have absence of teeth in the alveolar cleft or teeth that may be grossly abnormal or that erupt at an inappropriate angle and require removal. The lateral incisors are most commonly affected, although central incisors and canines may also be affected. Alveolar bone grafting during the mixed dentition phase restores adequate bone support for subsequent placement of an endosseous titanium implant, to which a permanent crown may then be attached. Many studies have reported the efficacy and safety of this approach. This has become the dentofacial prosthetic treatment of choice for the replacement of a single tooth due to its appearance, functionality, and longevity. A removable partial denture is one that rests on the surrounding soft tissues of the alveolar ridge and palate. Although aesthetics may be reasonable, it may cause irritation of the surrounding soft tissues and may produce movement during function. It is often a temporary solution at best.
A three-unit fixed partial denture is a prosthesis which spans the gap produced by the missing tooth by anchoring to the adjacent two teeth. However, the abutment teeth often require reduction to permit fixation of the prosthesis. While certainly longer lasting than a removable partial denture, a fixed partial denture will need to be replaced periodically, and therefore would not be the best choice for this young patient.
A palatal obturator is a prosthesis used to treat a residual oronasal fistula by physically blocking air escape during speech. This decreases hypernasality. It rests on the soft tissues of the palate and may anchor to the alveolar ridge or teeth. It does not, however, play a role in dental restoration. Nasoalveolar molding is a prosthesis-based treatment used early in life, typically for wide clefts, prior to repair of the lip and palate, but it is not used for dental restoration.
References
Bentz ML, Bauer BS, Zuker RM. Principles & Practice of Pediatric plastic Surgery. St. Louis, MO: Quality Medical Publishing; 2008:651-2.
Sowmya S, Shadakshari S, Ravi MB, Ganesh S, Gujjari AK. Prosthodontic care for patients with cleft palate. J Orofac Res. 2013;3(1):22-27.
Wermker K, Jung S, Joos U, Kleinheinz J. Dental implants in cleft lip, alveolus, and palate patients: a systematic review. J Oral & Maxillofac Implants. 2014;29(2):384-90.
A 35-year-old woman, gravida 1, para 2, with a history of bilateral cleft lip and palate comes to the office to discuss her risk for having a child with clefting. She reports that one of her twin children had a unilateral cleft lip and palate, and the other child did not have clefting but did have indentations of the lower lip. She reports no other history of clefting in her family, her husband, or her husband’s family. The likelihood that her next child will have a cleft lip and/or palate is closest to which of the following percentages?
A) 2.5%
B) 4%
C) 10%
D) 17%
E) 50%
The correct response is Option E.
The diagnosis for this patient is Van der Woude syndrome. Van der Woude syndrome is the most common syndrome associated with cleft lip with or without cleft palate. It is inherited in an autosomal dominant manner with incomplete penetrance, thus clinical presentation for patients with Van der Woude syndrome is variable. This patient has a de novo mutation, since no other family members reported clefting. Morphology for these patients can range from lip pits to bilateral complete cleft lip and palate. Van der Woude syndrome is most commonly related to mutations in interferon regulatory factor 6 (IRF6). Since this is an autosomal dominant condition, the best estimate for this woman’s next child to be affected is 50%.
The other percentages are all reported in the literature and are related to non-syndromic clefting and familial patterns. If there is one affected sibling with an isolated cleft lip, the risk factor is 2.5%. If there is one affected sibling with a unilateral cleft lip and palate, the risk factor is 4.2%. If there are two affected siblings, the risk factor is 10%. If parental cleft and sibling clefting are present, the risk factor has been reported at 17%.
References
McDonald-McGinn DM, DiCairano L, Mennuti MT. Prenatal and Genetic Counseling. In: Losee JE, Kirschner RE eds. Comprehensive Cleft Craft. 2nd ed. Boca Raton, FL: CRC Press; 2016; 1: 285-301.
Hixon K, Rhea L, Standley J, et al. Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome. Cleft Palate Craniofac J. 2017 May; 54(3):281-286.
Greives MR, Camison L, Losee JE. Evidence-based medicine: unilateral cleft lip and nose repair. Plast Reconstr Surg. 2014 Dec;134(6):1372-80.
Which of the following is the prevalence of middle ear effusion in patients with isolated cleft palate?
A) 10%
B) 30%
C) 50%
D) 70%
E) 90%
The correct response is Option E.
Over 90% of patients have chronic infection of the middle ear prior to repair. As a result of this fact, 100% of patients with cleft palate should be screened for hearing loss and for fluid in the middle ear due to eustachian dysfunction. There is emerging evidence and controversy with regard to treatment of the tensor veli tendon and the hamulus. However, this controversy and the tensor tenopexy, tensor transection, or fracture of the hamulus and their effects on the eustachian tube are beyond the scope of the question. However, what is clear, is that the cleft patient population is at risk for chronic infection of the middle ear. Unfortunately, if this condition is unrecognized, elements of preventable hearing loss will occur.
References
Robinson PJ, Lodge S, Jones BM, et al. The effect of palate repair on otitis media with effusion. Plast Reconstr Surg. 1992 Apr;89(4):640-5.
Huang MH, Lee ST, Rajendran K. A fresh cadaveric study of the paratubal muscles: Implications for eustachian tube function in cleft palate. Plast Reconstr Surg. 1997;100:833–842.
Paradise JL, Bluestone CD, Felder H. The universality of otitis media in 50 infants with cleft palate. Pediatrics. 1969 Jul;44(1):35-42.
A 3-month-old infant with 22q11.2 deletion syndrome is evaluated for an isolated cleft of the soft palate (Veau I). A Furlow palatoplasty is planned at age 9 months. Compared with nonsyndromic patients with the same cleft type, this patient will have a higher postoperative risk for which of the following?
A) Air embolus
B) Palatal fistula
C) Respiratory failure
D) Velopharyngeal insufficiency
E) Wound dehiscence
The correct response is Option D.
Velocardiofacial syndrome (VCF syndrome), also termed 22q11.2 deletion syndrome, is characterized by overt or submucous clefting of the palate, hypotonia, cardiac anomalies, hypocalcemia due to hypoparathyroidism, immune deficiencies, and variable learning disabilities. There should be strong clinical suspicion in any child with cardiac anomalies and a cleft palate, and most patients have a distinct facial appearance (ie, elongated face with a wide nose, small ears, and lower facial muscle tone). The diagnosis can be confirmed in 95% of patients by testing a blood sample using fluorescence in situ hybridization (FISH) for a deletion in chromosome 22q11.2. Repeated studies have demonstrated worse speech outcomes in this patient population following any cleft repair compared with nonsyndromic cleft patient and most other cleft syndromes. This difference has been largely attributed to decreased oropharyngeal tone and/or muscle coordination, but other influences, such as learning differences, may have a role. The risk for persistent velopharyngeal insufficiency following repair of cleft palate is considerably higher in this group than non-VCF syndrome patients undergoing the same repair. The risk for palatal fistula and wound dehiscence is not higher in VCFS; postoperative respiratory compromise can be seen in VCFS patients with concurrent Robin sequence, but this is not discussed in the clinical vignette. Lastly, air embolism is a complication that is not associated with cleft repair in any patient population.
References
Baylis AL, Munson B, Moller KT. Factors affecting articulation skills in children with velocardiofacal syndrome and children with cleft palate or velopharyngeal dysfunction: a preliminary report. Cleft Palate Craniofac. 2008; 45: 193-2017.
Rottgers SA, Ford M, Cray J, et al. An algorithm for application of Furlow palatoplasty to the treatment of syndrome-associated velopharyngeal insufficiency. Ann Plast Surg. 2011 May;66(5):479-84.
Bezuhly M, Fischbach S, Klaiman P, Fisher DM. Impact of 22q deletion syndrome on speech outcomes following primary surgery for submucous cleft palate. Plast Reconstr Surg. 2012 Mar;129(3):502e-510e.
Which of the following is true about cleft lip with or without palate when compared with cleft palate only?
A) Cleft lip/palate does not have a nasal deformity
B) Cleft lip/palate has a lower overall birth incidence than cleft palate only
C) Cleft lip/palate has a slight female predominance
D) Cleft lip/palate incidence is similar among different ethnicities
E) Cleft lip/palate is less likely to be associated with a syndrome
The correct response is Option E.
Cleft lip with or without palate (CLP) has different epidemiologic characteristics and presentation, compared with isolated cleft palate only (CPO). CLP has a higher incidence (1 in 700, versus 1 in 1500), higher male predominance (M:F 2:1, versus F:M 3:2), incidence varies by ethnicity (Asian:Caucasian:African 4:2:1, versus no ethnicity difference), and less syndromic association (15% versus 50%). Cleft lip is always associated with some degree of cleft nose deformity, whereas CPO does not involve the nose. Therefore the correct response is that cleft lip/palate is less likely to be associated with a syndrome.
References
Lin AY, Losee JE. Pediatric plastic surgery. In: Zitelli BJ, McIntire S, Nowalk AJ, editors. Atlas of Pediatric Physical Diagnosis. 6th edition. Philadelphia: Elsevier, 2012:890.
Hamm JA, Robin NH. Newborn craniofacial malformations: orofacial clefting and craniosynostosis. Clin Perinatol. 2015 Jun;42(2):321-36, viii.
Sweeney WM, Lanier ST, Purnell CA, Gosain AK. Genetics of Cleft Palate and Velopharyngeal Insufficiency. J Pediatr Genet. 2015 Mar;4(1):9-16.
An 8-year-old girl with a history of complete cleft lip and palate repaired as an infant presents for management of her alveolar cleft. During the preoperative visit, options for management of the bony defect are discussed. Which of the following is the primary disadvantage of secondary bone grafting using iliac crest cancellous bone rather than using demineralized bone matrix?
A) Cost
B) Donor site morbidity
C) Failure rate
D) Impact on mid face growth
E) Surgical procedure duration
The correct response is Option B.
The primary disadvantage of iliac crest bone grafting is postoperative pain in the donor site, as there is no donor site morbidity with demineralized bone matrix (DBM). Cost for the increased operating room time for the iliac crest bone graft cancels out the increased cost for DBM. Primary artery bypass grafting is associated with a negative impact on mid face growth that is not seen with secondary bone graft regardless of the material used in the defect. An iliac crest bone graft increases operating room duration but not enough to cause any significant morbidity. Failure rates of DBM and iliac crest bone grafting for alveolar defects are equivalent.
References
Macisaac ZM, Rottgers SA, Davit AJ 3rd, et al. Alveolar reconstruction in cleft patients: decreased morbidity and improved outcomes with supplemental demineralized bone matrix and cancellous allograft. Plast Reconstr Surg. 2012 Sep;130(3):625-32.
Liang F, Leland H, Jedrzejewski B, et al. Alternatives to Autologous Bone Graft in Alveolar Cleft Reconstruction: The State of Alveolar Tissue Engineering. J Craniofac Surg. 2018 May;29(3):584-593.
Macisaac ZM, Rottgers SA, Davit AJ 3rd, et al. Alveolar reconstruction in cleft patients: decreased morbidity and improved outcomes with supplemental demineralized bone matrix and cancellous allograft. Plast Reconstr Surg. 2012 Sep;130(3):625-32.
Liang F, Leland H, Jedrzejewski B, et al. Alternatives to Autologous Bone Graft in Alveolar Cleft Reconstruction: The State of Alveolar Tissue Engineering. J Craniofac Surg. 2018 May;29(3):584-593.
