Cupid's Bow Research Articles

Repair of complete bilateral cleft lip with severely protruding premaxilla performing a premaxillary setback and vomerine ostectomy in one stage surgery

BackgroundThe authors present a technique for selected cases of CBCL. The primary repair of the CBCL with a severely protruding premaxilla in one stage surgery is very difficult, essentially because a good muscular apposition is difficult, forcing synchronously to do a premaxillary setback to facilitate subsequent bilateral lip repair and, thus, achieving satisfactory results. We achieve this by a reductive ostectomy on the vomero-premaxillary suture.Material and Methods4 patients with CBCL and severely protruding premaxilla underwent premaxillary setback by vomerine ostectomy at the same time of lip repair in the past 24 months. The extent of premaxillary setback varied between 9 and 16 mm. The required amount of bone was removed anterior to the vomero-premaxillary suture. The authors did an additional simultaneous gingivoperiosteoplasty in all patients, achieving an enough stability of the premaxilla in its new position, to be able to close the alveolar gap bilaterally. The authors have examined the position of premaxilla and dental arch between 6 and 24 months. We did not do the primary nose correction, because this increased the risk of impairment of the already compromised vascularity of the philtrum and premaxilla.ResultsThe follow-up period ranged between 6 and 24 months. None of the patients had any major complication. During follow-up, the premaxilla was minimally mobile. We achieved a good lip repair in all cases: adequate muscle repair, symmetry of the lip, prolabium and Cupid’s bow, as well as good scars.ConclusionsTo our knowledge, there are few reports of one stage surgery with vomerine ostectomy to repair CBCL with severely protruding premaxilla. Doing this vomerine ostectomy, we don’t know how it will affect the subsequent growth of the premaxila and restrict the natural maxillary growth. Applying this alternative treatment for children with CBCL and protruded premaxilla without any preoperative orthopedic, we can successfully perform, in a single-stage surgery, a good primary lip repair at our center. Further confirmations of this surgery with follow up and anthropometric studies of these patients during childhood and adolescence are required. Key words: Protruding premaxilla, bilateral cleft lip, vomerine ostectomy, one stage surgery, Millard II technique.

Classification of the Aging Lips: A Foundation for an Integrated Approach to Perioral Rejuvenation.

Although perioral aging is highly individual with several distinct processes taking part simultaneously, there is scarce systematic information which helps to indicate the right rejuvenation approach among the multitude of proposed procedures. Existing data about perioral aging has not yet been transformed into a consistent therapeutic concept. The intention of this study was to provide a simple, yet reproducible classification and to offer appropriate rejuvenation approaches. To identify reliable and constant landmarks of the ongoing process of perioral aging, 462 perioral photo documentations were morphometrically analyzed. Based upon the identified landmarks a two-dimensional classification was developed. The classification was validated by three plastic surgeons. Inter- and intra-rater reliability was calculated using Cohen's kappa coefficient. Perioral aging can be broken down into changes of the lip shape and changes of the lip surface. Both processes can be classified into three stages each: Lip shape according to the shape in profile view, the lip length in relation to the frontal incisors, and the degree of vermilion inversion. Lip surface according to the presence and degree of radial wrinkles and the visibility of the structural elements Cupid's bow, philtrum, and white roll. Inter-observer reliability was rated very good (kappa values between 0.819 and 0.963) and perfect for intra-observer reliability (1.0). A better understanding of perioral aging leads to a simple classification for the aging lips. Using the classification helps to tailor an appropriate treatment to the individual patient and aids to achieve a natural rejuvenation result.

Morphometric analysis of the upper lip in Koreans.

The aims of this study were to provide the various dimensions of the philtrum and upper red lip in Korean young adults and to identify morphological characteristics of these structures in Koreans. A total of 10 dimensions of the philtrum and upper red lip were measured in 251 healthy young adults. Various indices were calculated among the measured features. The philtrum could be classified into three types according to its shape and index data. The mean height of the philtrum was 15.6 mm and the mean width of the mouth was 45.5 mm. The width of the superior and inferior philtrum, the height of philtrum, the width of the mouth, and the height of the upper red lip were significantly larger in males than in females (p < 0.05). A subtle morphological difference in Cupid bow was observed between the genders. There was a negative correlation between the length of the philtral column and the height of the upper red lip (p < 0.05). Furthermore, differences were identified in the dimensions of the philtrum and the upper red lip between Koreans and Caucasians. The results of this study could be a useful morphological basis for correction and reconstruction of the upper lip.

Median cleft of the upper lip associated with a mass: A rare case

Median cleft lip is a midline vertical cleft through the upper lip. This is a very rare anomaly described in the literature. Median cleft lip is caused by the failure of fusion of the medial nasal prominences. In this case report, a 4-month-old boy with a median cleft associated with a mass of the upper lip is presented. The patient has no other anomalies of the nose or alveolus. The patient has normotelorism. A Z-plasty technique was used on the skin of the base of the columella. A vertical excision of the cleft with muscle approximation was performed on the white roll and the wet-dry border of either side of the defect of the upper lip. Postoperatively, the patient had a satisfactory result. The incisive scars were not visible. Cupid's bow was appropriately aligned, and the height of the upper lip was equal on both sides.

A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea.

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

Minor-Form/Microform Cleft Lip Repair

In minor-form or microform cleft lip, normal anatomical structures with slight displacement remain and should be used effectively to obtain symmetrical results. We treated 7 patients with minor-form or microform cleft lip between 2005 and 2009. In all patients, the peak of Cupid bow with a natural curve of the white roll was recognized on the lateral lip. We modified the incision line to maintain the natural curve and obtained a symmetrical and natural-looking Cupid bow. In this article, we emphasize the importance of preserving the remaining normal structure, particularly the curve of the white roll on the lateral lip, and suggest that the peak of the curve should be defined as Cupid bow peak of the cleft side. Details of our concept for the correction of minor-form or microform cleft lip are also introduced.

The Philtrum in Cleft Lip

The philtrum is imperfectly formed in both unilateral and bilateral cleft lip. Surgical construction of this exquisite feature in the upper lip is challenging and often takes a back seat to construction of Cupid's bow and the nose. However, the philtrum is one of the defining features of a normal lip. The purpose of this review is to compile information on philtral anatomy and techniques for construction to guide the reader on his or her own quest to optimize cleft lip repair. In this article, we review the normal anatomy of the philtral dimple and ridges, with particular attention to pars peripheralis configuration. We also review methods for philtral construction during primary labial repair and secondary labial revision. For unilateral cleft lip, eversion of orbicularis oris muscle is necessary to build a philtral ridge. For bilateral cleft lip, emphasis is on proper design of the philtral flap and efforts to simulate a dimple and ridges. For secondary philtral correction, techniques include complete labial revision with various types of muscular re-repair and autologous philtral ridge augmentation. Objective methods are needed to document the efficacy of the many techniques for philtral construction and reconstruction.

Reconstruction of Upper Lip Muscle System by Anatomy, Magnetic Resonance Imaging, and Serial Histological Sections

Surgeons need references to undertake cleft lip repairs. We aimed to establish a three-dimensional model of upper lip muscles. We examined specimens from 2 adult cadaver heads and 8 adult cadaver lips, obtaining serial sections in the axial, sagittal, and coronal planes. Sections were stained to observe the philtrum, Cupid bow, vermilion, and nostril sill. Reconstruction was done with three-dimensional software (eg, 3D-DOCTOR, MicroMR). Parallel circular muscle fibers existed between modioli. The orbicularis oris deep layer contained fan muscle fibers inclining inward. Some ended at the anterior nasal crest. Others migrated to the depressor septum, crossed the midline, and migrated to the nasalis muscle. At the nostril floor, the depressor septum muscle bundle and ipsilateral orbicularis oris overlapped the nasalis muscle and the contralateral orbicularis oris. This construction shaped the nostril sill. The levator labii superioris alaeque nasi, levator labii superioris, and zygomaticus minor crossed the nasolabial groove and migrated to the superficial orbicularis oris, entering the outer edge of the nasal alar to the upper lip near the vermilion border and philtrum ridge, shaping Cupid bow. Contralateral deep orbicularis oris muscle fibers crossed the philtrum dimple to the lateral philtrum ridge (axial plane). Superficial reticular muscle fibers of the levator labii superioris, zygomaticus minor, zygomaticus major, and orbicularis oris inserted into the medial philtrum ridge (coronal plane). They intersected to form the philtrum ridge. A three-dimensional upper lip muscular system model was established that can be referenced for cleft lip repair and lip operations.

Constructing the Philtral Column in the Secondary Cleft Lip Deformity

The philtrum and the Cupid's bow are the most prominent features of the upper lip and are crucial for normal appearance. Unfortunately, projection of the philtral column is a common deficiency of the repaired cleft lip. Although a multitude of methods for constructing the philtral dimple and ridge have been described, no single procedure has achieved complete satisfactory results. The authors describe their technique for construction of the philtral column using palmaris longus tendon. Between 1998 and 2009, a retrospective study was performed for identifying patients with depression of the philtral scar following cleft lip repair. Pre- and postoperative photographs were taken with at least 6 months follow-up. Postoperative patient satisfaction and occurrence of complications are reported. In all, 17 patients who developed depression of the philtral ridge following cleft lip repair underwent philtral reconstruction utilizing palmaris longus tendon grafts by the senior author (H.K.K.). At the time of surgery, average age for 11 females and 6 males was 18.5 years. The follow-up period ranged from 6 to 126 months, with an average of 42.3 months. In the early postoperative period, 2 complications in the form of graft exposure occurred. However, both cases were successfully managed with preservation of the graft. All patients were satisfied with their long-term results, and none required further surgery. The use of palmaris longus tendon graft is an effective, reproducible, and safe method by which to construct the philtral column in the secondary cleft lip deformity.

Small-Wave Plasty for Correction of Lip Length Deficiency: A Case Report

Lip reconstruction may lead to disappointing results due to secondary deformity and visible scars. The Z-plasty in the Tennison technique is an effective method for repairing the upper lip subunits. The main issue is the visible and ungracious scar. A 38-year-old woman was treated for an upper lip deformity secondary to a dog bite injury. At 1month after a direct suture, a scar contracture with a defect of Cupid's bow and a vermilion height deficiency occurred. A Tennison procedure was chosen to repair the deformity. A small-wave incision procedure also was considered to minimize visibility of the scar. These two techniques were coupled in a small-wave plasty. The small-wave plasty design was performed with a superior flap base (L1) of 7mm and a circle arc of 10mm. The superior height (H1) was 3mm. The middle flap base (L2) was 4mm, and the circle arc was 6mm. The middle height (H2) was 2mm. The surgery time was 55min with the patient under general anesthesia. The skin healing was completed in 10days without scar contracture. The upper lip subunits were reconstructed with a regular Cupid's bow and a symmetric vermilion height. The scars were slightly visible at 1month postoperatively. The results were stable after a follow-up period of 12months. No revision was needed. The small-wave plasty, which couples a Tennison technique with a small-wave incision procedure, is efficient in reconstructing the subunits of the upper lip after a scar contracture deformity. This method should be used for upper lip reconstruction for minimal scar visibility. LEVEL OF EVIDENCE V: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Preoperative lip measurement in patients with complete unilateral cleft lip/palate and its comparison with norms

There is prominent lip asymmetry in patients with unilateral complete cleft lip and palate. Measurement of the lip on cleft and non-cleft sides provides appraisal of the lip deformity and information for planning of surgical correction. The purpose of this retrospective study is to evaluate the degree of lip deformity and to compare it with normative data. From 1983 to 1997, data from a total of 168 patients with unilateral complete cleft lip and palate were collected. There were no other associated craniofacial anomalies in this patient group. The measurement was performed under general anaesthesia by a senior surgeon using a calliper prior to the first lip repair. Corresponding normative data were collected from 2002 to 2003 on 50 patients who had normal facial appearance prior to hernia repair. The measurements included lip height, lip width, philtrum length and vermilion thickness. Comparisons were made between the cleft side and the non-cleft side, as well as between cleft patients and norms. Comparisons between the cleft and the non-cleft sides revealed significantly longer lip on the non-cleft side, including lip height from alar base to Cupid's bow, lip width from Cupid's bow to commissure and the vermilion thickness. The lip measurements on the norms were longer than those on the cleft side of the lip, but were similar to the non-cleft side. A wide variety of tissue growth asymmetry is observed between the non-cleft and the cleft sides, indicating a deficiency of tissue development associated with the cleft deformity. These data can provide a fundamental basis for presurgical orthopaedic treatment, surgical planning, execution of surgery, postoperative assessment and may help to predict treatment outcome.

The prevalence of lip vermilion morphological traits in a 15‐year‐old population

The aim of this study is to describe and categorize the various lip vermilion morphological traits, prevalence, and associations present in a 15-year-old population The instrument we developed was checked for the reliability of assessment. The study is a cross-sectional study of lip vermilion morphology in 2,246 fifteen-year-old children. Three-dimensional surface laser scans were taken of the children, and a classification scale was derived and assessed for intra- and inter-reliability. The prevalence of lip vermilion morphological traits and associations was identified. Certain features are found to be likely to be associated with each other: thin philtrum and smooth/deep indentation of the philtrum; wide philtrum and smooth/normal gradient, flat/absent Cupid's bow and smooth/normal/indentation near nose, V-shaped Cupid's bow and indentation in middle/deep groove; thin upper lip vermilion and deep groove; thick upper lip vermilion and smooth philtrum; acute nasolabial angle and upper lip double border and thick upper lip vermilion; obtuse nasolabial angle and thin upper lip vermilion. In conclusion, we present a new method to identify the various morphological features of the vermilion of the lips. The prevalence of morphological traits has been identified in this 15-year-old population. In addition, the association of lip traits has been reported. This classification scale may be utilized to ascertain prevalence of features amongst other ethnic groups, to gain knowledge of what is considered to be attractive features, and to determine genotype/phenotype associations.

A correlation study between the aesthetic rating and frontal measurement of philtrum in Nanjing's young population

To summarize and classify the frontal appearance of the philtrum in Nanjing' s young population, so as to assess the role of philtrum in the face aesthetics. From August 2010 to December 2011, 160 Nanjing's youth, aged from 20 to 25 years old, underwent photographic study and measurement. The aesthetic rate was graded both for philtrum and the whole face. The results were statistically analyzed. The standard philtral aesthetic appearance is a slim isosceles trapezoid, with an isosceles triangle whose obtuse angle is about 140 degrees reversed at the bottom, like a necktie. The aesthetic rating was highest for philtrum in male NO. 105 and female NO. 33, while for the whole face in male NO.45 and female NO. 7. The mean data of the major parameters were as follows: the length of mouth width was (50.0 +/- 4. 3) mm (male), (47.0 +/- 4.0) mm (female); the length of right red lip was (20.2 +/- 2.4) mm (male), (19.3 +/- 2.3) mm (female); the length of left red lip was (20.2 +/- 2.2) mm (male), (18.9 +/- 1.8 ) mm (female); the length of right philtrum column was (15.5 +/- 2.0) mm (male), (13.6 +/- 2. 2) mm (female); the length of left philtrum column was (15.6 +/- 1.9) mm (male), (13.7 +/- 2.3) mm (female); the length of philtrum sulcus was (17.3 +/- 2.1) mm (male), (15.3 +/- 2.4) mm (female). The upper breadth of philtrum was (5.6 +/- 0.8) mm (male), (5.5 +/- 1.1) mm (female); the middle breadth was (9. 5 +/- 1.1) mm (male), (8.5 +/- 1.2) mm (female); the lower breadth( cupid bow width) was (13.8 +/- 1.8) mm (male), (11.8 +/- 1.6) mm (female). The right half of cupid bow was (7.5 +/- 0.9) mm (male), (6.5 +/- 0.9) mm (female); The left half of cupid bow was (7.2 +/- 0.9) mm (male), (6.1 +/- 0.8) mm (female). The philtrum angle was (141.2 +/- 8.0) degrees (male), (141.3 +/- 6.1) degrees (female). Although there is slight difference in the measurement results between two sides of philtrum column and cupid bow (P < 0.01), it is not obvious by naked eyes. Except for the upper width of philtrum and the philtrum angle (P > 0.05), the other parameters have significant sexual differences (P < 0.05). The beautiful philtrum can not mainly decide the whole face aesthetics, which usually shows a harmony relationship between all the facial aesthetic units. The measurement results can be used as a reference for philtrum plasty.

Single-Stage Repair of Asymmetrical Bilateral Cleft Lip with Contralateral Lesser Form Defects

Complete or incomplete cleft lip may include a contralateral lesser form of incomplete cleft lip to give rise to an asymmetrical bilateral cleft lip deformity. The principle of simultaneous bilateral cleft repair remains an area of contention with regard to asymmetrical cases, including a lesser form deformity. The cleft lip database of the senior author (D.M.F.) was searched for patients with complete or incomplete bilateral cleft lip with a contralateral lesser form defect. Results were assessed by reviewing photographs and recording revisions. Of 111 patients with bilateral cleft lip, 35 (32 percent) had asymmetrical cleft lip, with 13 patients having contralateral lesser form defects. All infants with complete cleft lip-cleft palate underwent presurgical orthodontics. All patients subsequently went on to single-stage bilateral cleft lip repair. Seven revisions were performed in the symmetrical complete bilateral cleft lip group; no revisions were performed in the asymmetrical bilateral cleft lip group. The authors recommend a single-stage operation for repair of the bilateral cleft lip irrespective of the extent: complete, incomplete, lesser form, symmetrical, or asymmetrical. This approach provides the best opportunity to achieve symmetry of the Cupid's bow and of the resultant scar, and provides the ideal opportunity for reconstruction of the prolabial deficiencies of the cutaneous roll, vermilion, and median tubercle. Therapeutic, IV.

Construction of the Philtral Column Using Palmaris Longus Tendon

Sir:FigureThe philtrum and the Cupid bow are the most prominent features of the upper lip and are crucial for normal appearance. Unfortunately, projection of the philtral ridge is a common deficiency of repaired cleft lips. Many methods for constructing the philtral dimple and column have been described, most commonly involving the manipulation of orbicularis oris muscle or using various autologous grafts to augment the philtral column.1–3 Despite these developments, no single procedure has achieved complete satisfactory results. The palmaris longus tendon, present in 75 to 95 percent of the population, is well established as a graft because of its ease of harvest, minimal donor-site morbidity, and long-term viability. Recently, the palmaris longus tendon graft has been used as a cosmetic and reconstructive option for upper lip augmentation and also has been reported as a philtral graft in cleft lip repair.4,5 Since December of 1998, the senior author (H.H.K.) has used the palmaris longus graft to correct the depression of the philtral scar following cleft lip repair. After harvesting the palmaris longus, creation of the recipient site begins with a 5-mm incision made in the nasal floor remote from the philtrum. Sharp dissection with iris scissors creates a subcutaneous tunnel underneath the philtral scar that extends caudally 1 to 2 mm into the vermilion. The tendon is folded onto itself and secured with 5-0 chromic suture to create a graft that is at least four layers thick. Guide sutures of 4-0 Vicryl are placed through both ends of the graft. A groove director is directed down the subcutaneous philtral tunnel with its end positioned under the lip vermilion. A large Keith needle with the attached 4-0 Vicryl suture is passed down the groove director and brought out through the lip vermilion. On removal of the groove director, the multilayered tendon graft is manipulated down the tunnel using the Vicryl guide sutures. The graft is secured at each end with one or two percutaneous 5-0 plain catgut sutures. The incision is closed with 5-0 chromic suture. In 1997, Youn and colleagues reported the use of palmaris longus tendon to construct the philtral column in the secondary cleft lip deformity.5 Our experience similarly finds the palmaris longus tendon to be an ideal graft. However, there are significant differences between our experience and previously published reports. Although Youn and colleagues used grafting of the tendon in conjunction with open cleft lip revision, we found the transfer of the palmaris longus graft alone to be adequate in the majority of cases. We also describe a closed technique using one small incision in the nasal sill that offers significant advantages over previously reported methods. Long-term follow-up of up to 10 years proves that a significant portion of this volume persists. This results in the effacement of the depressed philtral scar in all patients, which contributes significantly to a good cosmetic outcome (Fig. 1). In our experience, all patients were satisfied with the improvement in lip appearance and no patient required another operation.Fig. 1: (Above) Preoperative appearance. (Below) Postoperative appearance 29 months after a palmaris graft to the left philtrum.Capt. Alan A. Lim, M.D., M.C., U.S.N. Department of Plastic and Reconstruction Surgery, Naval Medical Center Portsmouth, Portsmouth, Va. Karam A. Allam, M.D. Department of Plastic Surgery, Sohag University, Sohag, Egypt Rashimi Taneja, M.D. Fortis Fit. Lt. Rajan Dhali Hospital, Sector B, Pocket 1, Aruna Asaf Ali Marg, Vasant Kunj, New Delhi, India Henry K. Kawamoto, M.D., D.D.S. Division of Plastic and Reconstructive Surgery, University of California, Los Angeles, Santa Monica, Calif. DISCLOSURE The authors have no financial interest to declare in relation to the content of this article. DISCLAIMER The views in this article are those of the authors and do not necessarily reflect the official policy or position of the U.S. Department of the Navy, U.S. Department of Defense, or U.S. government.

Comprehensive Evaluation of Three-Dimensional Philtral Morphology

This study was designed to evaluate detailed philtral morphology involving sex and racial differences and to clarify the objective parameters related to subjective judgments regarding the clarity of the philtrum. Fifty-five Japanese and 20 Mexican normal subjects aged 24 to 40 years were recruited, and three-dimensional facial data were acquired using a noncontacting optical surface scanner. The visual classification of the philtral column morphology in Japanese adults using facial photographs revealed that the predominant philtral column shape was different by sex. The three-dimensional anthropometric data showed significant sex differences, which were reflected in the more pronounced visual impression of the philtrum in men. A comparative study between Japanese and Mexican women also revealed certain racial differences. Furthermore, both the philtral depth and central angle of Cupid's bow were extracted as explanatory variables related to the subjective judgments for the clarity of the philtrum. These results suggest that the comprehensive evaluation of philtral morphologic features by three-dimensional analysis is a useful means of identifying the ideal parameters in philtral construction in cleft surgery.

Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

We report eight unrelated individuals with intellectual disability and overlapping submicroscopic deletions of 8q21.11 (0.66-13.55 Mb in size). The deletion was familial in one and simplex in seven individuals. The phenotype was remarkably similar and consisted of a round face with full cheeks, a high forehead, ptosis, cornea opacities, an underdeveloped alae, a short philtrum, a cupid's bow of the upper lip, down-turned corners of the mouth, micrognathia, low-set and prominent ears, and mild finger and toe anomalies (camptodactyly, syndactyly, and broadening of the first rays). Intellectual disability, hypotonia, decreased balance, sensorineural hearing loss, and unusual behavior were frequently observed. A high-resolution oligonucleotide array showed different proximal and distal breakpoints in all of the individuals. Sequencing studies in three of the individuals revealed that proximal and distal breakpoints were located in unique sequences with no apparent homology. The smallest region of overlap was a 539.7 kb interval encompassing three genes: a Zinc Finger Homeobox 4 (ZFHX4), one microRNA of unknown function, and one nonfunctional pseudogen. ZFHX4 encodes a transcription factor expressed in the adult human brain, skeletal muscle, and liver. It has been suggested as a candidate gene for congenital bilateral isolated ptosis. Our results suggest that the 8q21.11 submicroscopic deletion represents a clinically recognizable entity and that a haploinsufficient gene or genes within the minimal deletion region could underlie this syndrome.

The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature

We report on two patients with overlapping small interstitial deletions involving regions 14q12 to 14q13.1. Both children had severe developmental delay, failure to thrive, microcephaly, and distinctive facial features, including abnormal spacing of the eyes, epicanthal folds, sloping forehead, low-set ears, rounded eyebrows with triangular media aspect and outer tapering, depressed and broad nasal bridge, small mouth, a long philtrum, and a prominent Cupid's bow. Brain MRI of both children showed partial agenesis of the corpus callosum. Our first patient had bilateral hypoplastic optic nerves causing blindness, mild hearing impairment, sinus arrhythmia, abnormal temperature regulation, frequent apneic episodes, myoclonic jerks, and opisthotonus. Our second patient had a seizure disorder confirmed by EEG, sleep apnea, chronic interstitial lung disease, and several episodes of pneumonia and gastroenteritis. Cytogenetic analysis showed a normal karyotype in Patient 1 and a unique apparently balanced three-way translocation in Patient 2 involving chromosomes 4, 14, and 11. High resolution SNP Oligonucleotide Microarray Analysis (SOMA) revealed a deletion in the proximal region of chromosome 14q overlapping with the deletion of our first patient, and no copy number changes in chromosomes 4 and 11. Here, we review and compare published cases with a deletion involving the 14q12-22.1 chromosomal region in an effort to correlate phenotype and genotype. We also examine the underlying genomic architecture to identify the possible mechanism of the chromosomal abnormality. Our review found a patient with a mirror duplication of our first patient's deletion, confirming the existence of an underlying genomic structural instability in the region. © 2011 Wiley-Liss, Inc.

3D Assessment of Lip Scarring and Residual Dysmorphology following Surgical Repair of Cleft Lip and Palate: A Preliminary Study

To evaluate lip scarring and the three-dimensional (3D) lip morphology following primary reconstruction in children with unilateral cleft lip and palate (UCLP) relative to contemporaneous noncleft data. Retrospective, cross-sectional, controlled study. Glasgow Dental Hospital and School, University of Glasgow, U.K. Three groups of 10-year-old children: 51 with UCLP, 43 UCL (unilateral cleft lip), and 68 controls. Three-dimensional images of the face were recorded using stereo cameras on a two-pod capture station, and 3D coordinates of anthropometric landmarks were extracted from the facial images. A novel method was applied to quantify residual scarring and the associated lip dysmorphologies. The relationships among outcome measures were investigated. Residual lip dysmorphologies were more pronounced in UCLP cases. The width of the Cupid's bow was increased due to lateral displacement of the christa philteri left (cphL) in both UCL and UCLP patients. In the upper part of the lip, the nostril base was significantly wider in UCLP cases when compared with UCL cases and controls. Scar redness was more pronounced in UCL than in UCLP cases. No relationship could be identified between lip scarring and other measurements of lip dysmorphology. Stereophotogrammetry, together with associated image analysis, allow early detection of residual dysmorphology following cleft repair.

Esthetic Evaluation of the Treated Unilateral Cleft Lip Using Photographs and Image Analysis Software: A Retrospective Study

The aim of this study was to objectively evaluate the surgical outcome of unilateral cleft lip patients treated by Dr. Adenwalla's modification of Millards rotation advancement technique using image analysis software. Of the unilateral cleft lip cases done by a single surgeon using Dr. Adenwalla's modification of Millard's rotation advancement technique, only 11 cases satisfied the photographic standardization criteria (frontal view with both ears visible to minimize rotation and least nostril show to minimize tilt) and were included in this study. These photographs were acquired into the imageJ Software and Farkas cleft-related landmarks were marked on the lip area. The values of treated cleft side and the normal side were used to work out a Cleft Lip Component Symmetry Index. A value of 100 would indicate perfect symmetry of the lip. A value of either less or more would mean a degree of asymmetry. The horizontal lip length, vertical lip length from the top of the Cupid's bow to subnasale and nostril floor width were slightly increased on treated side of the lip and the vertical lip length from the top of the Cupid's bow to the alar base, the Cupid's bow width and vermilion length on the treated side were slightly decreased when compared to the normal side. Even though there were some differences, it was not statistically significant. The horizontal and vertical lip lengths, the Cupid's bow width, vermilion length and nostril floor width were almost symmetrical. Computer assisted anthropometric analysis of photographs using imageJ software demonstrates that Dr. Adenwalla's modification of Millard's rotation and advancement technique produces esthetic lip symmetry consistently.