Short Columella Research Articles

Staged Abbe-Rhinoplasty Technique to Correct Bilateral Cleft Deformity.

The mature bilateral cleft nasolabial deformity exhibits prolabial and vermilion deficiency, a broad depressed nasal tip, and short columella. Many strategies attempt to correct these stigmata, with varying degrees of success. The purpose of this communication is to describe a novel sequenced approach, staging an Abbe flap and rhinoplasty, with morphometric analysis of results. CLINICAL QUESTION/LEVEL OF EVIDENCE:: Therapeutic, IV.

Classification of Angulation Deformities of Lower Lateral Cartilages and Their Restoration.

Shape of the tip is supplied by lower lateral cartilages (LLC) which are divided into 3 crura each composed of 2 segments divided by junction lines (JL). Tip restoration becomes more complicated with the presence of angulation deformities (AD) over LLC. It is aimed to classify AD based on their relationship to JL, to clarify their causes of the formation and to discuss restoration techniques for each of them. Between 2016 and 2018, 375 primary rhinoplasties have been performed. All types of the AD have been retrospectively determined, renamed. Six different types of AD have been encountered in this series. Four of AD (types A, B, C, and D) have been located over JL and 2 of AD (types S and T) have not been located over JL. Type-A AD diverging the footplates were observed in 9 patients, type-B AD resulting in a boxy-nose were observed in 18 cases, type-C AD resulting in acute angulation of the dome at the medial genu were observed in 4 patients, type-D AD resulting in a pinched tip and concave alar wings were observed in 6 patients, type-S AD resulting in a weak, and short columella were observed in 5 patients, type-T AD that creates a bulge over ala was observed just in 1 patient in our series. The total number of patients with AD was 39 (10.4% of all cases). Classification of AD over LLC based on their relationship to certain JL provides ease for recognition of these deformities and immediate per-operative planning for their restoration.

The conchal butterfly graft in secondary reconstruction of the bilateral cleft lip nasal deformity

ObjectivesThe bilateral cleft nasal deformity is characterized by a short columella and a broad, flattened nasal tip. Secondary correction is challenging and often complicated by skin envelope scarring and hypoplastic alar cartilages. Adequate and durable tip projection requires a procedure that adequately augments the nasal tip and maximizes tip support. We describe a novel technique for secondary correction of this deformity in the immature pediatric population. MethodsThe conchal butterfly graft technique utilizes a folded cartilage construct to simultaneously increase tip projection and provide tip support. A retrospective review of 19 consecutive patients with bilateral cleft lip who underwent secondary tip rhinoplasty utilizing our technique over a 7-year period was conducted. Charts were reviewed for age at operation, length of follow-up and secondary revision procedures. Pre- and post-operative photographs were compared using two different methods to assess the degree of change and overall aesthetic result. Three plastic surgeons who previously were unfamiliar with the technique independently rated seven nasal tip characteristics. Nasal tip projection (NTP) was then measured objectively by two widely utilized methods: the Goode method and the Baum method-modified by Powell. ResultsLong lasting correction of the bilateral cleft nasal deformity was achieved utilizing this technique in 19 patients over a 7-year period with a mean length of follow-up of 5.4 years. We demonstrate augmented nasal tip projection that approaches ideal relationships from both relative measurement and survey data. ConclusionThe conchal butterfly graft technique is effective for reconstruction of the bilateral cleft nasal deformity, and in our experience, has resulted in long lasting nasal projection and overall improved facial balance.

Kabuki syndrome: international consensus diagnostic criteria

BackgroundKabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of these genes opens the door...

A Case of Coumarin Embryopathy After in Utero Exposure to Acenocoumarol

AbstractCoumarins (warfarin, acenocoumarol, phenprocuomon) are well known agents that are prescribed for prevention of thromboembolic episodes in pregnant women who are on mechanical heart valves prosthesis. It acts as double edge sword as fetus is unnecessarily exposed to teratogenic effect of drug. Warfarin is well studied drug in terms of its tetratogenic dose, period of exposure, fetopathic effects. Acenocoumarol is well known teratogen but its effect and lethal dose on fetus is less reported. We report a neonate who was exposed to acenocoumarol throughout intra uterine life. Neonate showed all features of coumarin embryopathy (flat facial profile, depressed nasal bridge, short columella, skeletal stippling, short distal phalanges in hand) and cephalhaematoma in addition. We also summarised the clinical findings of all the cases reported so far of acenocoumarol embryopathy. Acenocoumarol has same teratogenic potential as of warfarin. Doses causing embryopathy remained unexplored field. Clinicians need to document properly so that scientific data can be generated as ethical issues arises in head to head trial of these drugs.

Clinical and laboratory characteristics and genetic diagnosis of Kabuki syndrome

Objective: To investigate the clinical features, laboratory characteristics and genetic diagnosis of Kabuki syndrome (KS). Methods: Between September 2014 and September 2016, seven children with clinically diagnosed KS from the neurology department, Beijing Children Hospital, Capital Medical University were included in this study. Three of them were male and 4 were female aged from 19 days to 6 years and 4 months with a median age of 3 years and 1 month. The clinical features, laboratory and imaging materials, gene tests were analyzed prospectively. Results: Clinical manifestation: cephalofacial anomaly: all seven cases had unusual facies presented as long palpebral fissures, eversion of the lateral third of lower eyelids, arched eyebrow with brow sparse, epicanthus, orbital hypertelorism, short columella with broad and depressed nasal tip; six cases presented with palatal arch deformity; four cases presented with ptosis; three cases presented with dental abnormalities and hearing impairment respectively; two cases presented with strabismus and earlap malformation respectively; one case presented with amblyopia. Six cases presented with skeletal anomalies. Six cases presented with dermatoglyphic anomalies. All cases presented with mild to moderate mental retardation. Three cases presented with short stature. Four cases presented with cardiac abnormalities. Three cases presented with epileptic seizures. Others: three cases presented with dystonia and neonatal hyperbilirubinemia respectively; two cases presented with feeding problem and hypoglycemia respectively; one case presented with micropenis and fetal finger pads respectively. All seven patients received magnetic resonance imaging (MRI) tests, and none demonstrated an abnormal finding. Five patients received electroencephalogram (EEG) tests, and three of them presented with seizures and EEG abnormalities. Five patients received genetic testing and all presented with KMT2D heterozygous mutations which were new mutations proved by parents validation (three cases were nonsense mutations, one was frameshift mutation, one was missense mutation). All patients received rehabilitation training and symptomatic treatments. Three patients presented with epileptic seizures received antiepileptic therapy. At a median follow-up of 11 months (from 4 months to 2 years), one patient died, one lost to follow-up and five had improved intellectual and physical development. Epileptic seizures were controlled or reduced significantly in three patients presented with epileptic seizures. Conclusions: KS is a multisystem disease with complicated manifestations, which needs a combination of various diagnosis and treatments. Genetic testing can help determine the diagnosis. Unusual facies and mental retardation are the main clinical features and diagnostic clue. It is important to improve prognosis through increasing the knowledge of KS, early diagnosis, and treatment.

Endoscopic Transcanal Autologous Cartilage Ossiculoplasty.

This was a randomized clinical trial, of thirty-two patients undergoing endoscopic ossiculoplasty, as a second look surgery, at 6months after primary endoscopic cholesteatoma surgery, in a duration of 9years. All patients underwent trans-canal endoscopic ossiculoplasty under local anesthesia. Prosthesis used were (1) Titanium partial ossicular replacement prosthesis (PORP) in fourteen, (2) Titanium total ossicular replacement prosthesis (TORP) in six and (3) Autologous cartilage in twelve cases. Puretone audiometry (PTA) were done preoperatively and postoperatively at 2months and 3years. Out of twenty-four cases, which presented only with stapes superstructure; fourteen underwent PORP ossiculoplasty and twelve had cartilage short columella ossiculoplasty (SCC). Out of eight cases, which had only mobile stapes footplate, six underwent TORP ossiculoplasty and only two underwent long columella cartilage ossiculoplasty (LCC). Pre-operative average air conduction threshold (AC) of pure tone audiometry were 45.47dB (PORP), 66.10dB (TORP), 49.15dB (SCC) and 59.15dB (LCC) groups. The post-operative AC at 2months were respectively 27.37dB (PORP), 45.83dB (TORP), 29.99dB (SCC) and 39.15dB (LCC) groups. The gap of air and bone conduction (ABG) at 2months post-operative stage were 19.05dB (PORP), 20dB (TORP), 20.32dB (SCC) and 39.15dB (LCC) groups and not much changed after 3years. Extrusion occurred in three PORPs and four TORPs at 4-8years after surgery. Four cases were lost to follow up. No extrusion occurred in cartilage ossiculoplasty. Trans-canal endoscopic autologous cartilage ossiculoplasty shows encouraging results comparable to titanium prosthesis in repairing ossicles in cholesteatoma disease.

Bilateral Cleft Lip and Palate, With Facial Dysplasia: Interdisciplinary Treatment and Long-Term Follow-Up.

Bilateral complete clefts represent the result of an incomplete fusion with all the morphologic components present. It is well known that patients with bilateral cleft lip and palate have typical characteristics such as insufficient medial face development with an orthodontic class III tendency, flat nose and short columella with abnormal nasolabial angle, bilateral oronasal fistulas, alterations in the number and position of the lateral incisors, and agenesis or supernumerary teeth. Successfully solving these cases, results in a difficult challenge and studies showing extended follow-up are not frequent. Bilateral complete clefts, including medial facial dysplasia, are a rare condition, not only difficult to be included in any classification but also of complex solution. These patients require multiple surgical procedures throughout life, and long-term results are often still far from ideal. Due to surgical intervention and diminished intrinsic growth potential, surgical results may change from initially good into a progressively disappointing outcome. However, if the ideal timing and type of surgery are known, in combination with the intrinsic growth potential, these results could be ameliorated. A patient with complete bilateral cleft, presenting hypoplasia of philtrum and premaxilla, flat nose with rudimentary columella and septum, is reported. A description of her interdisciplinary treatment and long-term outcome with an adequate and stable result was observed. Being the intrinsic growth restriction mainly localized in the central mid-face, a protocol oriented to stimulate facial development during growth period could be essential to reduce the number of surgical procedures and prevent sequels. Early referral to a specialized center is mandatory to achieve a correct treatment and result.

Strategies to Evaluate Bilateral Cleft Lip Treatment.

Evaluate treatment of patients with bilateral cleft lip operated during the last 10 years, using the methodology of Mortier and Anastassov. A total of 84 patients were evaluated using a preoperative score assessing fissure severity and a postsurgical score assessing of uncorrected or secondary deformities. A pre- and postcorrelation analysis was performed to evaluate the gain and identify the main postoperative alterations, using Spearman's statistical test (P < 0.001). About 89.3% underwent surgery between 4 and 7 months. Surgical techniques used Millard 65.5% and Mulliken 34.5%. Presurgical evaluation classified fissures as mild (0%), moderate (2.4%), severe (19.1%), or very severe (78.6%). Postoperative evaluation classified results as poor (24%), satisfactory (12%), good (15, 6%), very good (34.6%), or excellent (14.3%). The postoperative changes on the lip were the notch in the vermilion and the defect in the edge of the vermilion, and in the bow of the wide cupid; in the nose, the most frequent were deficiency in the upper nasal nostril, insufficient rotation of the alar base, broad tip, and short columella; in the scar and alveolar portion, the most frequent were alveolar cleft, premaxilla protrusion, and poor scar. Spearman correlation of preoperative and postoperative was positive of 0.43. The proposed measurement method is technically simple and can be performed without equipment allowing pre- and postoperative evaluation to identify the main alterations to be corrected.

Study of pathology of ossicles in non-cholesteatomatous chronic suppurative otitis media, its repair and outcome

&lt;p class="abstract"&gt;&lt;strong&gt;Background:&lt;/strong&gt; &lt;span lang="EN-IN"&gt;If the ears have perforation of long standing durations, even without cholesteatomas, they remain infected. Three times as many operations were performed in the United States in 1978 for this disease as were performed for cholesteatoma. The objective of the study was to study of pathology of ossicles in non-cholesteatomatous chronic suppurative otitis media, its repair and outcome. &lt;/span&gt;&lt;/p&gt;&lt;p class="abstract"&gt;&lt;strong&gt;Methods:&lt;/strong&gt; &lt;span lang="EN-IN"&gt;This is a clinical study of patients presented to outpatient, department of Vijayanagar Institute of Medical Sciences, Bellary during the period of November 2004 to November 2005 with non-cholesteatomatous chronic suppurative otitis media. This study is aimed to study the various ossicular abnormalities encountered in non-cholesteatomatous chronic suppurative otitis media and their reconstruction techniques. &lt;/span&gt;&lt;/p&gt;&lt;p class="abstract"&gt;&lt;strong&gt;Results:&lt;/strong&gt; &lt;span lang="EN-IN"&gt;12 ears (40%) had central and 18 ears (60%) had subtotal perforation. The average hearing loss in patients with isolated erosion of lenticular process of incus was 50.72±6.95 dB. In our study, autologous incus was used for ossicular reconstruction in 14 (46.67%) patients and homologous septal cartilage in 10 (33.33%) cases. Twenty-nine of the 30 cases underwent myringostapediopexy (type IIIb tympanoplasty) with the ossicular graft as short columella between the tympanic membrane graft and the stapes superstructure. &lt;/span&gt;&lt;/p&gt;&lt;p class="abstract"&gt;&lt;strong&gt;Conclusions:&lt;/strong&gt; &lt;span lang="EN-IN"&gt;Excellent results were noted only with the autologous incus graft. 28.57% of the total patients with autologous incus graft showed excellent post-operative results. Good results were found for autologous incus, homologous septal cartilage and teflon PORP, with percentage of 28.57, 50 and 25% respectively.&lt;/span&gt;&lt;/p&gt;

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

In 2016, we described that missense variants in parts of exons 30 and 31 of CREBBP can cause a phenotype that differs from Rubinstein-Taybi syndrome (RSTS). Here we report on another 11 patients with variants in this region of CREBBP (between bp 5,128 and 5,614) and two with variants in the homologous region of EP300. None of the patients show characteristics typical for RSTS. The variants were detected by exome sequencing using a panel for intellectual disability in all but one individual, in whom Sanger sequencing was performed upon clinical recognition of the entity. The main characteristics of the patients are developmental delay (90%), autistic behavior (65%), short stature (42%), and microcephaly (43%). Medical problems include feeding problems (75%), vision (50%), and hearing (54%) impairments, recurrent upper airway infections (42%), and epilepsy (21%). Major malformations are less common except for cryptorchidism (46% of males), and cerebral anomalies (70%). Individuals with variants between bp 5,595 and 5,614 of CREBBP show a specific phenotype (ptosis, telecanthi, short and upslanted palpebral fissures, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum). 3D face shape demonstrated resemblance to individuals with a duplication of 16p13.3 (the region that includes CREBBP), possibly indicating a gain of function. The other affected individuals show a less specific phenotype. We conclude that there is now more firm evidence that variants in these specific regions of CREBBP and EP300 result in a phenotype that differs from RSTS, and that this phenotype may be heterogeneous.

Comparison of Various Graft Materials in the Reconstruction of Ossicular Chain in Patients with Chronic Otitis Media: A Prospective Hospital Based Study

Introduction&#x0D; Ossicular chain reconstruction is the surgical procedure used to correct the hearing problems in patients with chronic otitis media (COM). In this era, where a large variety of innovative artificial prosthetic materials are being used to replace and reconstruct the ossicular chain, autografts still play a significant role.&#x0D; Materials and Methods&#x0D; The present study included 40 patients. Study population was selected based on inclusion and exclusion criteria. The ossicular reconstructive procedure was done under anesthesia and according to the status of the ossicular chain. Temporalis fascia was used to close the perforation. Mainly two procedures were performed: one is intact canal wall and the other is canal wall down. &#x0D; Results &#x0D; Most of the study population was middle aged and males were more compared to females. Thirty five patients had air bone gap above 30dB. In 38 patients, the incus had undergone necrosis. Most of the patients underwent short columella reconstruction. A closure of air bone gap with in 20 dB was achieved in 72.2% in patients with malleus stapes assembly. In short columella 22.2% of patients had closure of air bone gap within 20 dB. Incus remnant grafts gave better hearing gain.&#x0D; Discussion&#x0D; The published literature on the result of use of sculptured ossicle and cartilage in tympanoplasty have been reviewed&#x0D; Conclusion &#x0D; In the present study, cases with COM showed good hearing results patients implanted with autogenous cartilage and bone.

Photometric Evaluation in Adolescence of Patients With Bilateral Cleft Lip and Palate Treated With Nasoalveolar Molding and Primary Columella Lengthening.

Nasal stigma in patients with bilateral cleft lip and palate (BCLP) are a short columella and a flattened nasal tip. The aim of this study was to evaluate the aesthetics of adolescents with BCLP, operated with a modified Cutting primary columella lengthening technique, associated to a modified Grayson orthopedic nasoalveolar molding (NAM). 72 BCLP patients were operated with this approach. Standardized photographic records were taken every 2 years. A group of 23 patients between 12 and 13 years of age was compared through normalized photogrammetry to a matched control of 23 noncleft adolescents. Nasal protrusion and length of the columella were very close to normal. On the other hand, nasolabial angle and interalar width were still excessively wide compared to the noncleft sample. NAM and primary columella lengthening in BCLP has allowed to avoid traditional secondary columella lengthening at 5 to 6 years of age and given the patients a more pleasing, near-normal nasolabial appearance until adolescence. Some of the patients will require correction of the nasal width at a later stage.

Simultaneous reconstruction of columella and philtrum using prolabial flap combined with Abbe flap in secondary bilateral cleft lip and nasal deformity

Open rhinoplasty and Abbe flap techniques are traditionally useful tools for the reconstruction of secondary bilateral cleft lip nasal (BCLN) deformity. We aimed to investigate the long-term outcomes of simultaneous columella and philtrum reconstruction using prolabial flap combined with Abbe flap in secondary BCLN deformity.From January 2009 to July 2014, 26 patients (17 males and 9 females; mean age 21 years) with secondary BCLN deformity were recruited. All patients had severe short columella and philtrum deficiency. The whole superiorly based prolabial flap was harvested and trimmed for columella reconstruction. An Abbe flap from the central lower lip was elevated to reconstruct the esthetic philtral unit. No flap necrosis occurred postoperatively. The average follow-up was 2.7 years. The columella length was 4.7 ± 1.3 mm preoperatively and 10.4 ± 2.1 mm postoperatively. The philtrum length increased to 14.4 ± 2.6 mm postoperatively from a preoperative 8.9 ± 2.4 mm. Regarding the overall impression of the reconstruction, 22 patients ranked it as very good or good.In secondary BCLN deformity, the prolabial flap combined with Abbe flap technique is an effective alternative for the treatment of severe short columella complicated with severe philtrum deficiency.

Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1

We present a 7-year old male with severe delays, hypotonia and dysmorphic features who had striking, deep palmar and plantar creases and pillowing of the soft tissues of the palms and soles. His facial features included a high anterior hairline, small eyes with narrowed palpebral fissures, a bulbous nasal tip with a short columella, and a large mouth with a thin upper vermilion, and small chin. He had a submucous cleft palate, bilateral cryptorchidism and hydronephrosis. Cranial imaging demonstrated an Arnold Chiari malformation that was also present in his maternal uncle by report. Exome sequencing revealed a de novo heterozygous sequence variant, p.Tyr446Cys, in TBL1XR1 that has previously been reported in six patients with Pierpont syndrome. This sequence variant occurs in the carboxy-terminal, WD40 domain of the protein. As TBL1XR1 is a critical component of the NCoR/SMRT co-repressor complex and the WD40 repeats are hypothesized to interact with histone H2B and H4, the mutation may impact protein interactions necessary for stabilizing the complex with chromatin. De novo missense and frameshift mutations and deletions involving TBL1XR1 have been described in patients with intellectual disability and autism, but without any of the dysmorphic findings or malformations associated with Pierpont syndrome, implying a mutation-specific mechanism for the pathogenicity of p.Tyr446Cys. Our case is the first individual with this mutation to have a submucous cleft palate and hydronephrosis, although his severe delays, hypotonia, dysmorphic findings and emerging scoliosis appear consistent with previous reports. His distinctive facial and digital features are further evidence that p.Tyr446Cys results in a clinically recognizable, syndromic form of intellectual disability in contrast to other TBL1XR1 mutations.

Binder syndrome: Clinical findings and surgical treatment of 18 patients at the Department of Plastic Surgery in Polanica Zdrój.

Binder syndrome (BS) is an uncommon congenital underdevelopment of the maxilla and nasal skeleton. Other clinical features include a hypoplastic or absent anterior nasal spine; a short, flat nose with short columella; an acute nasolabial angle; a convex upper lip and class III malocclusion. The aim of the study was to outline the major characteristics of BS and to present a variety of surgical treatment methods. The study included 18 patients treated in the authors' department from 1989 to 2013. The patients were predominantly women, aged 6 months to 34 years. Nine patients did not present any co-morbidities, but in the other 9 the most common co-morbidities were a unilateral cleft lip and palate, followed by a cleft palate, a bilateral cleft lip and palate, a cleft lip, GERD, gluten intolerance, oligophrenia, goiter and foot malformation. Most of the patients had not been operated on previously. The most common procedure carried out was an iliac crest bone graft. In 4 patients, no procedures other than cleft lip and palate repair were undertaken. In 3 cases a Le Fort I osteotomy was performed to correct the patients' orthognathic status. No major or life-threating complications were noted. In 2 cases, due to a high degree of resorption of bone grafts, multiple secondary grafting of bone, cartilage and deepithelialized skin was necessary to obtain satisfactory results. In BS surgical treatment is the treatment of choice. It results in adequate correction of facial retrusion. However, due to various degrees of bone resorption, the results are not lifelong. No unequivocally superior surgical strategy in BS has been presented so far. Most disagreement among authors is related to the need for and timing of maxillary osteotomy, the choice between bone and cartilage grafting in nose reconstruction and columella lengthening. Although alloplastic materials offer the tempting advantage of fast and simultaneous augmentation of deficient tissues, their use may risk prolonged infections and extrusion, resulting in exacerbations of deformities.

Binder's Syndrome: A Case Report.

Binder's syndrome or nasomaxillary hypoplasia or maxillonasal dysplasia is an uncommon developmental disorder predominantly affecting the maxillary anterior region and the nasal complex. A concave profile, broad and flat nose, short columella, convex upper lip, and malocclusion are the major clinical findings. The characteristic features of this syndrome are developmental failure in the premaxillary area, with concomitant defects of the nasal skeleton. The current article presents case report of 16year old patient of binder's syndrome describing its features, surgical intervention and postop results.

How to Harmonize the Ethnic Nose.

The demand for cosmetic surgery has significantly increased in the past few years mainly due to economic rise witnessed in Brazil. The state of Bahia has predominately Afro-descendant population with the same countrywide scenario, where the surgeon must be able to face challenges such as the specifics demands of rhinoplasty in an ethnic nose. It represents not only a different nasal variety from the Caucasoid, but also a complex anatomical feature, with its own peculiarities, as thicker and oilier skin, with bulky fibrous fatty tissue with numerous sebaceous glands. The nose tip features both inadequate projection and definition, including a short columella and underdeveloped nasal spine. The lower lateral cartilages are lower and thinner if compared with Caucasian noses. The nasal septum is short and fragile, whereas the dorsum is low and wide with deep nasion and wide obtuse angles between nasal bones. Finally, yet importantly, the nose base has increased interalar distance and excess of alar wing, with an ovoid, horizontal, and open nostril. Considering all these uniqueness, the existing challenges to approach an ethnic nose are clear. It requires skill and accurate surgical maneuvers to seek facial harmony while maintaining the characteristics that define the individual ethnicity and identity.

CLINICAL EFFICACY OF MODIFIED POLYTETRAFLUOROETHYLENE PROSTHESIS RHINOPLASTY

To explore the clinical efficacy of modified polytetrafluoroethylene (PTFE) prosthesis rhinoplasty for correction of low nose and short columella. Between August 2012 and August 2015, modified PTFE prosthesis rhinoplasty was used to correct low nose and short columella in 52 patients. There were 4 males and 48 females, aged 19 to 45 years (mean, 27 years). Primary rhinoplasty was performed in 47 cases; secondary rhinoplasty was performed in 5 cases, and it was 12-18 months from the first operation (mean, 15 months). During operation, a scaly sag ventral side was made by carving and moving cap shaped nose prosthesis was prepared, and nasal dorsumnasal columella prosthesis covered by tension-free flap was designed. At pre-operation and last follow-up, Image ProPlus 6.0 software was used to measure the nose length, nose depth, nose tip width, nostril/nose tip, nasolabial angle, and nasal tip rotation for evaluation of external nose shape correction; and ultrasound was used to measure the alar cartilage angle, alar two vertex distance, and nose tip to vertex distance for evaluation of internal soft tissue changes; the prosthesis position was observed by CT scan at 12 months. All incisions healed by first intention, with no complications. All patients were followed up 7-36 months (mean, 20.4 months). At 12 months after operation, CT scans showed that prosthesis located in the middle of the nose and above nasal bone, septal cartilage and crus mediale cartilaginis alaris majoris in 45 patients; no prosthesis displacement was observed. At last follow-up, image measurement and ultrasound results showed external nose shape parameters (except nostril/nose tip) and internal soft tissue structures were significantly improved when compared with preoperative values (P<0.05). Modified PTFE prosthesis rhinoplasty can effectively correct low nose and short columella, with small surgical trauma and good appearance.

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

Mutations in CREBBP cause Rubinstein-Taybi syndrome. By using exome sequencing, and by using Sanger in one patient, CREBBP mutations were detected in 11 patients who did not, or only in a very limited manner, resemble Rubinstein-Taybi syndrome. The combined facial signs typical for Rubinstein-Taybi syndrome were absent, none had broad thumbs, and three had only somewhat broad halluces. All had apparent developmental delay (being the reason for molecular analysis); five had short stature and seven had microcephaly. The facial characteristics were variable; main characteristics were short palpebral fissures, telecanthi, depressed nasal ridge, short nose, anteverted nares, short columella, and long philtrum. Six patients had autistic behavior, and two had self-injurious behavior. Other symptoms were recurrent upper airway infections (n = 5), feeding problems (n = 7) and impaired hearing (n = 7). Major malformations occurred infrequently. All patients had a de novo missense mutation in the last part of exon 30 or beginning of exon 31 of CREBBP, between base pairs 5,128 and 5,614 (codons 1,710 and 1,872). No missense or truncating mutations in this region have been described to be associated with the classical Rubinstein-Taybi syndrome phenotype. No functional studies have (yet) been performed, but we hypothesize that the mutations disturb protein-protein interactions by altering zinc finger function. We conclude that patients with missense mutations in this specific CREBBP region show a phenotype that differs substantially from that in patients with Rubinstein-Taybi syndrome, and may prove to constitute one (or more) separate entities. © 2016 Wiley Periodicals, Inc.