Total reconstruction of the "end-stage" cleft lip and palate deformity

The purpose of this paper is to present a 5-year experience using a comprehensive surgical approach to reconstruct what we have chosen to call the "end-stage cleft lip and palate deformity." The deformity consists of varying degrees of midface retrusion, malocclusion, nasal deformity, and lip deformity. Most of the patients afflicted had unacceptable upper lip anatomy characterized by tightness and lack of cupid's bow and bulk. All had severe palatal scarring with resulting arch collapse and severe malocclusion. Most had had multiple surgical attempts to improve nasal aesthetics using standard rhinoplasty techniques with little or no improvement. The procedure involves splitting the upper lip with incisions extending into the upper buccal sulcus and rim of the nose allowing wide skeletalization of the maxilla and osteocartilagenous nasal skeleton. LeFort I or II maxillary advancement, nasal reconstruction, and upper lip modification (with Abbé flap if indicated) are done. The jaws are placed in intermaxillary fixation for 6 to 8 weeks. This comprehensive approach has been used in 16 patients, aged 15 to 29 years, with follow-up of up to 5 years. Excellent functional and aesthetic improvement has occurred in all patients, and complications have been minimal.     

Primary correction of unilateral cleft lip nasal deformity in Asian patients: anthropometric evaluation

Previously it was thought that primary correction of nasal deformity in cleft lip patients would cause developmental impairment of the nose. It is now widely accepted that simultaneous correction of the cleft lip nasal deformity has no adverse effect on nasal growth. Thus, the authors tried to evaluate the results of primary correction of cleft lip in Asian patients. Of 412 cases of cleft lip, 195 cases were corrected by means of the conventional method from June of 1992 to June of 1997, and 217 cases were corrected by simultaneous rhinoplasty from July of 1997 to October of 2001. The average patient age was 3 months. Photographs and anthropometric evaluation were used to evaluate the results. Nasal tip projection, columellar length, and nasal width were measured in 60 randomized normal children, 30 randomized children treated with the conventional method, and 30 randomized children with primary nasal repair. Data were analyzed using t tests, and the level of significance was 5 percent (p < 0.05). In cases of simultaneous repair, nasal tip projection and columellar length were increased 24.8 percent and 28.8 percent, respectively. Nasal width was increased 12.3 percent in the cases of simultaneous repair and 12.6 percent in the cases without primary rhinoplasty. Simultaneous repair of cleft lip and nasal deformity in Asian patients showed that more symmetry of nostril and nasal dome projection and better correction of buckling and alar flaring were achieved. More balanced growth and development of the alar complex was achieved, and no interference with nasal growth was encountered.     

The use of nasal splints in the primary management of unilateral cleft nasal deformity

Primary surgical correction of the cleft lip nasal deformity is routinely performed at the Craniofacial Center at Chang Gung Memorial Hospital. Over time, however, there is a tendency for the lower lateral cartilage to retain its memory and, subsequently, recreate the preoperative nasal deformity. Therefore, it is current practice to use a nostril retainer for a period of at least 6 months to maintain the corrected position of the nose. The aim of this study was to qualitatively assess the benefit of postoperative nasal splinting in the primary management of unilateral cleft nasal deformity. Data from two groups of 30 patients with complete unilateral cleft lips each were retrospectively collected and analyzed. The first group served as a control (no nasal splints), and the second group used the nasal retainer compliantly for at least 6 months postoperatively. All patients had their primary lip repair at 3 months of age. A photographic evaluation of the results when the patients were between 5 and 8 years of age was conducted. The parameters used to assess the nasal outcome were nostril symmetry, alar cartilage slump, alar base level, and columella tilt. The first scores were based on residual nasal deformity, and the second set were based on overall appearance. It was found that the mean scores of residual nasal deformity for all four parameters in patients who used the nasal stent were statistically better than the scores of patients who did not (p values ranged from 0.0001 to 0.005). The overall appearance scores for the four parameters in the patients who used the nasal stent after surgery were also statistically better than the scores for those who did not (p values ranged from 0.0001 to 0.01). The results show that postoperative nasal splinting in the primary management of the unilateral cleft nasal deformity serves to preserve and maintain the corrected position of the nose after primary lip and nasal correction, resulting in a significantly improved aesthetic result. Therefore, it is recommended that all patients undergoing primary correction of complete unilateral cleft deformity use the nasal retainer postoperatively for a period of at least 6 months.     

Primary definitive nasal correction in patients presenting for late unilateral cleft lip repair

Almost 25 percent of unilateral cleft lip and palate patients present with their deformity in their teens or later years in the developing world. Because more than 80 percent of the world population lives in the developing world, the established protocol for repair of these deformities is not applicable to these patients. Despite the magnitude, there are no significant reports in the literature that deal with this problem. Several issues need to be addressed, but the author limits himself here to the correction of the nasal deformity. The patients at this age are very much concerned with the aesthetic outcome. Procedures described hitherto for primary nasal correction in infants are not successful in restoring nasal shape and symmetry at this late age of presentation. Our experience with radical correction of secondary nasal deformity in unilateral cleft lip patients presenting late prompted us to extend the concept by undertaking a definitive primary correction of the nasal deformity in cleft patients presenting late. Twenty-two patients with unilateral cleft lip deformity (nine male patients and 13 female patients) with ages ranging from 13 to 22 years, presenting between August of 1997 and December of 2000, are included in this study. Of these, 11 patients had a cleft of the lip alone, eight also had a cleft of the alveolus, and three had a cleft of the palate continuous with the cleft lip. All patients showed some maxillary hypoplasia. An external rhinoplasty with lip repair was carried out in all patients. The corrective procedures on the nose included columellar lengthening; augmentation along the pyriform margin, nasal floor, and alveolus using bone grafts; submucous resection of the nasal septum; repositioning of lower lateral cartilages; and augmentation of nasal dorsum by bone graft. Clinical follow-up ranged from 4 to 24 months, and the median follow-up period was 13 months. Results have been very good, and much better than results seen earlier with other primary rhinoplasty techniques. While repairing unilateral cleft lip in adolescents, the author thinks it would be most appropriate to address the entire gamut of the deformity in a single stage, provide complete vector reorientation, and augment the hypoplastic elements by autologous tissue. It is not just the fear of poor follow-up, but that merely correcting the lip deformity in these patients without attempting definitive rhinoplasty, in the author's opinion, would be insufficient surgical intervention.     

Augmentation of the nostril splint for retaining the corrected contour of the cleft lip nose

Whatever method is used to correct the deformity of the cleft lip nose, it is important to maintain the corrected contour of the nose for a certain period postoperatively. For this purpose, moldable silicone rubber is used to add volume to a ready-made nostril splint. With this material it is easy to make a splint that fits the individual contour of the nostril. Clinical examples are presented.     

Anodontia as the sole clinical sign of the ectrodactyly-ectodermal dysplasia-cleft lip (EEC) syndrome

In this report we present another family with oligosymptomatic expression of the EEC syndrome. A mother with complete absence of the permanent teeth had two children with split hand/split foot deformity, as typically seen in the EEC syndrome. Cleft lip/cleft palate was also present in one of them. The great variability in expression of this autosomal dominant syndrome is discussed and the difficulties in genetic counseling are emphasized.     

The effects of unilamellar perichondrial dissection on the growth of rabbit ear cartilage

The effects of elevation of the perichondrium from a surface of growing ear cartilage were investigated in immature rabbits. Eight 21-day-old rabbits completed the study in which perichondrium was elevated from one cartilaginous surface of one ear and the nonoperated ear served as a control. By maturity, both ears had developed symmetrically and no statistically significant difference could be demonstrated in length and surface area. Although several ears demonstrated subtle shape changes, the overall growth and development of the surgically manipulated ear cartilages did not appear to be affected. These findings appear to contradict a widely held view that perichondrial dissection of developing cartilage has a high potential for subsequent growth disturbances. The corollary has been that cartilage manipulation, such as that required in the surgical repair of the cleft lip nose deformity, should be delayed until the growth of cartilage is complete. These data would support the findings of long-term clinical studies which demonstrate the efficacy of early limited perichondrial dissection in the correction of the cleft lip nose deformity.     

Simultaneous reconstruction of the secondary bilateral cleft lip and nasal deformity: Abbé flap revisited

The purpose of this retrospective study was to review the method of using the Abbé flap for correction of secondary bilateral cleft lip deformity in selected patients with tight upper lip, short prolabium, lack of acceptable philtral column and Cupid's bow definition, central vermilion deficiency, irregular lip scars, and associated nasal deformity. A total of 39 patients with the bilateral cleft lip nasal deformity received Abbé flap and simultaneous nasal reconstruction during a period of 6 years. Mean patient age at the time of the operation was 19.1 years, and ranged from 6.6 to 38.5 years. The average follow-up period was 1.8 years. Fourteen patients had prior orthognathic operations. The Abbé flap was designed 13 to 14 mm in length and 8 to 9 mm in width and contained full-thickness tissue from the central lower lip, with a slightly narrow reverse-V caudal end. The prolabium, including the scars and central vermilion, was excised. Lengthening procedures of the upper lip segments were performed if vertical deficiency existed. Part of the prolabial skin was preserved and mobilized for columellar elongation, if indicated. Open rhinoplasty was carried out with or without cartilage graft for columella and nasal tip reconstruction. Reduction of the alar width and nostrils was achieved by a Z-plasty or excision of scar tissue at the nostril floor. The Abbé flap was then transposed cephalad, insetting into the median defect and sutured in layers. The results demonstrated no flap problems or perioperative complications. Seven patients needed further minor revisions on the nose and/or lip. Laser treatment was used to improve the lip scars in three patients. The patients were satisfied with the final outcome and found the lower lip scars acceptable. In conclusion, the described technique of Abbé flap and simultaneous rhinoplasty is an effective reconstructive method for select patients with bilateral cleft lip and nasal deformity.     

A case of Keutel syndrome diagnosed in the neonatal period: associated with Binder phenotype

Keutel syndrome is a rare autosomal recessive disorder, characterized by brachytelephalangia (short, broad distal phalanges), midfacial hypoplasia, abnormal cartilage calcifications, peripheral pulmonary stenosis and hearing loss. Binder profile is a well known maxillonasal dysplasia composed of midfacial hypoplasia with absence of anterior nasal spine and facial dysmophism (short nose, flat nasal bridge, perialar flatness, convex upper lip). Here we report a Keutel syndrome presenting with Binder phenotype, abnormal calcifications, hearing loss and respiratory insufficiency in the newborn period. Keutel syndrome should be considered in the differential diagnosis of children with tracheobronchial calcifications, midfacial hypoplasia and stippled epiphysis.     

Nonsurgical correction of nasal deformity in unilateral complete cleft lip: a 6-year follow-up.

Nasal deformity in unilateral cleft lip and palate patients increases with time, tongue malposition being one of the causes. Some authors have emphasized the role of nasal and adjacent facial musculature as active extrinsic agents. Another cause of alar deformity can be the lack of a proper foundation because of a maxillary hypoplasia in the region of the pyriform foramen. If alar collapse occurs, the septum bends convexly toward the cleft side. Tissues are soft and plastic during the neonatal period. Once the infant is about 3 months of age, it becomes difficult to correct the nasal deformity. Therefore, any resource used from the first day, and mainly during the first 15 days of life, will be useful to prevent the increasing deformity and to avoid the surgical correction. A controlled clinical trial was planned to compare the anthropometric measurements of the nasal region in two series of patients with unilateral complete cleft lip. In the first group, we included 44 patients who came to our clinic during the first 2 days of life and the second group consisted of 47 patients who were more than 15 days of age at the time of the first consultation. To provide control data for the evaluation of the results after 6 years of follow-up in both series of cleft patients, we also included a third group of 48 healthy 6-year-old children. A nasal component added to the occlusal prostheses was only used in the first group up to the time of surgery. The same surgeon performed a Millard II procedure with muscular reposition as described by Delaire in all the patients. Nasal measurements taken with a caliper, obtained directly from plaster models by using surface impressions of the babies, were confirmed by a laser three-dimensional measuring device. The statistical comparison between both series showed a significant increase of the columellar length in the first group. A 6-year follow-up to compare growth and cosmetic results of the nose revealed a better and permanent nasal nostril symmetry and no alar cartilage luxation in the patients who had had the nasal component. These results highlight the importance of the early treatment and allow us to suggest the nasal prostheses as a way to prevent the increasing nasal deformity, to help nasal remodeling, to obtain columellar elongation, and to avoid or decrease the need for primary surgery of the cleft nose.     

Assessment of bilateral cleft lip nose deformity: a comparison of results as judged by cleft surgeons and laypersons

Reconstruction of bilateral cleft lip nose deformity is difficult and the outcome is inconsistent. This study was conducted to evaluate the gross outcome and the difference in the assessment of nasal appearance as judged by two groups of raters, cleft surgeons and laypersons. Sixty-four patients with bilateral cleft lip were selected for review. The patients' ages ranged from 5 to 30 years. All patients had undergone primary cleft lip repair and secondary nasal reconstruction, and had been followed for at least 6 months. One image for each patient, which included a digitized frontal, lateral, and worm's-eye view, was projected for evaluation by the raters. The raters included five cleft surgeons and five laypersons. A rating scheme was used in which a score of 3 was given for a good, close to normal nasal appearance, 2 for an average result that needed minor revision, and 1 for a poor result that needed major reconstruction. The scores were averaged for each patient in each group and for each group as a whole. The final outcome was judged as good, fair, or poor on the basis of the mean score for each patient. Statistical analysis was performed. The mean score for all patients was 2.08 as assessed by the laypersons and 2.18 as assessed by the cleft surgeon group. There was no statistically significant difference between the two groups. Comparisons on rating scores among different raters revealed a fair agreement on the ratings within each of the two groups. The results were found to be good in 29.7 percent, fair in 64.1 percent, and poor in 6.3 percent of patients when evaluated by the surgeons. When rated by the laypersons, the nasal appearance was found to be good in 26.6 percent, fair in 60.9 percent, and poor in 12.5 percent of patients. This difference in distribution between the two groups was not statistically significant. When comparing the results given by the two groups of assessors, there was agreement on the nasal appearance in 65.6 percent of patients, and a difference in grading in the rest. For the patients who received different grading, the surgeons rated them one grade higher in 63.6 percent and one grade lower in 36.4 percent. There was no difference in grading between any of the evaluators that reflected a two-grade discrepancy in evaluation of results. This study shows that the surgical outcome of bilateral cleft lip nose deformity repair, at the authors' institution, is less than optimal. When assessing bilateral cleft lip nose appearance, the judgment of results by cleft surgeons was similar to that of the laypersons. However, different rating of results existed within each of the two groups, supporting the importance of clearly assessing patient/parent expectations and defining realistic surgical goals.     

Congenital isolated absence of the nasal columella: reconstruction with an internal nasal vestibular skin flap and bilateral labial mucosa flaps

Congenital aplasia of the nasal columella is a very rare anomaly. The deformity is characterized by the isolated absence of the columella from the nasal tip to the root of the philtrum, including the medial crura of the alar cartilages; surrounding structures such as the septum, nose, and upper lip are normal. To the best of our knowledge, only four such cases have been described to date. The embryopathogenesis for this uncommon disease is presently unknown. Our report describes a 14-year-old girl with congenital agenesis of the columella as an isolated anomaly. Her family history was positive for the presence of the same congenital deformity, which also affected her older brother; there was, however, no consanguinity between the parents. The columella defect was reconstructed with an internal nasal vestibular skin flap and bilateral upper labial mucosa flaps. There are many techniques available to repair columella defects, including free grafts from the ear, local flaps from the forehead, face, upper lip, and nose, distant flaps such as tube pedicle flaps, and free flaps from the ear. Each of these techniques has advantages and disadvantages. Because of this, the treatment of columella defects should be individualized.     

New technique for correction of the microform cleft lip using vertical interdigitation of the orbicularis oris muscle through the intraoral incision

A microform cleft lip has three major components: (1) a minor defect of the upper vermilion border with loss of the mucocutaneous ridge; (2) a narrow ridge of tissue, resembling an exaggerated philtral column extending to the nostril sill; and (3) a deformity of the nostril. To attain the muscle continuity without an external scar on the upper lip, the author introduced a new method for the correction of a microform cleft lip deformity using vertical interdigitation of the orbicularis oris muscle through the intraoral incision to create the philtrum. Through the intraoral incision, a full-thickness incision is made down to the mucosa and the posterior portion of the muscle. Then, the remaining portion of the muscle is dissected. The medial and lateral muscle flaps are also detached from the oral mucosa and completely exposed and split into two leaves. The upper leaf of the lateral muscle flap is sutured to the dermis on the philtral dimple and base of the upper leaf of the medial muscle flap. Two leaves of each muscle flap are sutured together to create a vertical interdigitation to increase the thickness of the philtral column and to provide continuity of the muscle. A total of 12 patients with microform cleft lip were treated between August of 2001 and October of 2002. Seven of the patients were male and five were female, with an age range of 1 to 43 years. The follow-up period ranged from 6 months to 15 months, with an average follow-up of 9 months. The results of vertical interdigitation of the muscle were examined. All patients were satisfied with their results. The orbicularis oris muscle provided continuity and preserved good function. In all cases, the operation scar was not visible on the depressed philtral groove on the cleft side. Correction of cleft lip nasal deformity was performed in four patients and alar base advancement was performed in two patients. The advantages of the proposed procedure include the creation of an anatomically natural philtrum without an external visible scar through the intraoral incision, preservation of the continuity and function of the muscle, and sufficient augmentation of the philtral column by the vertical interdigitation of the muscle.     

Secondary correction of the unilateral cleft lip nose using a conchal composite graft

The secondary deformity of the unilateral cleft lip nose has many components. One is the dorsal dislocation of the lateral crus of the alar cartilage. We used a conchal composite graft positioned between the piriform aperture and the lateral crus and the upper lateral cartilage to correct this dislocation in nine patients. We believe that this graft is effective because it elevates the lateral crus of the alar cartilage off the depressed piriform aperture. This technique is very simple to perform, and it is easy to achieve nasal symmetry. Our results have been quite satisfactory, with no recurrence of dorsal dislocation. The donor site was covered by a subcutaneous pedicled flap from the cephaloauricular sulcus, leaving an inconspicuous deformity.     

Anatomy of the nasal cartilages of the unilateral complete cleft lip nose

The purpose of this study was to disclose the relationship between the anomaly of the cartilaginous framework and the nasal deformity of cleft lip. The noses of six stillborn infants with unilateral complete cleft lip were carefully dissected. The size and weight of the lower lateral cartilages were measured to determine whether there was a significant difference between the normal and involved sides. The position of the nasal cartilages was observed, and the distance between them was measured to determine whether they were normal. The surgical dissection revealed that the lower lateral cartilages from both sides were asymmetrical in three dimensions, indicating the displacement of the lower lateral cartilage on the involved side. There was displacement of the cartilaginous septum and the upper lateral cartilage. The statistical evaluation did not demonstrate a significant difference between weight and size of the two sides. One of the major causative factors of nasal deformity is displacement of the nasal cartilages. There is no hypoplasia of nasal cartilage in newborn infants with cleft lip.     

Double translocation t(7;12),t(2;6) heterozygosity in one family

Summary Double translocation heterozygosity t(2;6),t(7;12) in three generations of a Dutch family is described: the segregation of a double translocation in more than one generation has not been previously published. The index case was a 16-year-old mentally retarded boy with partial trisomy 12p who showed several dysmorphic features such as high prominent forehead, flat face, flat and short nose bridge, short nose, dysplastic ears, prominent lower lip, and several skeletal abnormalities. Based on the findings in this patient and those in nine other cases, the existence of a specific trisomy 12p syndrome is postulated.     

Correction of secondary cleft lip deformities

Learning Objectives: After studying this article, the practitioner should be able to (1) describe the common secondary deformities of the cleft lip, (2) determine the appropriate timing for surgical intervention to correct the deformities, and (3) determine the best method of addressing each of the individual secondary deformities of the cleft lip. Secondary deformities are common in children born with a cleft lip and palate. Patients with cleft lip deformity will undergo multiple surgical procedures early in life, so it is imperative to prioritize treatment of their secondary deformities and minimize the number of interventions needed. Of the many approaches used to correct these problems, surprisingly few work well consistently. As with all plastic surgery, the timing and procedure should be predicated on the severity of the deformity.     

Asymmetric incision for open rhinoplasty in cleft lip nasal deformity.

One of the problems in the correction of the unilateral cleft lip nasal deformity is the alar web deformity on the mediosuperior side of the nostril. A number of methods for the correction of the alar web deformity have been introduced, but no single procedure has been identified as the standard. In this report, the incision line of the open rhinoplasty was modified and the alar web deformity was corrected by using an incision and closure. Open rhinoplasty with the asymmetric incision was performed on 18 patients with unilateral cleft lip nasal deformity. The incision line used in the normal side was the usual intranasal rim incision line and that used for the columella was the transcolumella incision line. For the cleft side, an intranasal rim incision line was plotted after the rim was lifted upward with forceps to achieve symmetry of the nasal tip. After removal of the forceps, the incision line of the cleft side was displaced outside the nostril. After such an incision, the alar cartilage mobilization and suspension were performed with or without the conchal cartilage graft. All patients used nasal retainers for 6 months after the procedures. So far, satisfactory results have been obtained with the modification of the incision line for open rhinoplasty. This method is unique in designing the incision line, and its procedure is rather simple. The postoperative follow-up period has been 12 to 26 months. A long-term follow-up is still needed, especially in growing children.     

A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene

Stickler syndrome is characterized by ophthalmic, articular, orofacial, and auditory manifestations. It has an autosomal dominant inheritance pattern and is caused by mutations in COL2A1, COL11A1, and COL11A2. We describe a family of Moroccan origin that consists of four children with Stickler syndrome, six unaffected children, and two unaffected parents who are distant relatives (fifth degree). All family members were clinically investigated for ear, nose, and throat; ophthalmologic; and radiological abnormalities. Four children showed symptoms characteristic of Stickler syndrome, including moderate-to-severe sensorineural hearing loss, moderate-to-high myopia with vitreoretinopathy, and epiphyseal dysplasia. We considered the COL9A1 gene, located on chromosome 6q13, to be a candidate gene on the basis of the structural association with collagen types II and XI and because of the high expression in the human inner ear indicated by cDNA microarray. Mutation analysis of the coding region of the COL9A1 gene showed a homozygous R295X mutation in the four affected children. The parents and four unaffected children were heterozygous carriers of the R295X mutation. Two unaffected children were homozygous for the wild-type allele. None of the family members except the homozygous R295X carriers had any signs of Stickler syndrome. Therefore, COL9A1 is the fourth identified gene that can cause Stickler syndrome. In contrast to the three previously reported Stickler syndrome-causing genes, this gene causes a form of Stickler syndrome with an autosomal recessive inheritance pattern. This finding will have a major impact on the genetic counseling of patients with Stickler syndrome and on the understanding of the pathophysiology of collagens. Mutation analysis of this gene is recommended in patients with Stickler syndrome with possible autosomal recessive inheritance.