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Two- and three-dimensional sonographic assessment of the fetal face. 2. Analysis of cleft lip, alveolus and palate.

OBJECTIVES: To describe the sonographic appearance of cleft lip with or without cleft palate (CL +/- P) using two-dimensional and three-dimensional (3D) ultrasound imaging. Also, to evaluate the accuracy of ultrasound to delineate with precision the bony extent of facial clefts, i.e. to differentiate clefts limited to the lips, or extending to the alveolus/premaxilla or the secondary palate. METHODS: This was a retrospective study based on the examination of fetuses diagnosed with an isolated CL +/- P. Cases included were either discovered at systematic screening or referred for further investigation. Clefts were characterized by their precise anatomical location and extent. The defect could include a cleft lip (CL), a cleft alveolus (CA), or a cleft of the secondary palate (CSP). RESULTS: We analyzed 96 cases of CL +/- P. The mean gestational age at examination was 28.2 +/- 4.1 weeks. The sonographic appearance of CL, CA, and CSP was depicted. Strict concordance of the sonographic report with the anatomical defect was present in 84 cases (87.5%). In eight cases, the severity of the cleft was underestimated: three cases of CA, four of CA + CSP and one of CSP were missed. In four cases, the cleft was overestimated as CA was incorrectly suspected. CONCLUSIONS: Systematic screening with sonography to detect prenatally CL +/- P requires the imaging of at least the mid-sagittal and the anterior coronal 'nose-mouth' views. Once the presence of a facial cleft is suspected, the three reference orthogonal planes are imaged in order to characterize the anatomical defect, and for each plane, the serial scans are thoroughly examined. This protocol allows precise delineation of the defect. Inclusion of 3D and 4D ultrasound imaging in the examination protocol allows easier and more rapid screening and more precise evaluation of the different cleft constituents.

Cleft Lip↗

Characterization of a novel gene disrupted by a balanced chromosomal translocation t(2;19)(q11.2;q13.3) in a family with cleft lip and palate.

Cleft lip with or without cleft palate is a common birth defect that is genetically complex. The nonsyndromic forms have been studied genetically using linkage and candidate-gene association studies with only partial success in defining the loci responsible for orofacial clefting. Loci for nonsyndromic cases have been suggested on 2p13, 4q31, 6p24, 17q21-q24, and 19q13.2. Recently, we identified a family in which cleft lip and palate segregated in two of three generations with a balanced chromosomal translocation t(2;19)(q11. 2;q13.3). We used a positional-cloning strategy to identify a novel gene disrupted by the translocation on chromosome 19. Eight rare (q < 0.01) and nine common (q > 0.01) variants of this gene were detected in the DNA of 74 unrelated cases of cleft lip and/or cleft palate; no variants associated significantly with clefting, suggesting that this gene is not a major contributor to abnormal craniofacial development. This gene, CLPTM1, was ubiquitously expressed on Northern blots containing RNA from adult tissues and in whole-mount in situ hybridization of day 10 to 12 mouse embryos. CLPTM1 encodes a transmembrane protein and has strong homology to two Caenorhabditis elegans genes, suggesting that CLPTM1 may belong to a new gene family.

Alleles↗

The history of treatment of cleft lip and palate.

The history of surgery of cleft lip and palates reaches as far backwards as the prechristian era to 390 B.C. when for the first time a cleft lip was closed successfully in China. Although Egyptian and Greek medicines developed to a remarkable degree, no descriptions of cleft operations have survived. In the middle ages operations on cleft lip have been several times described. A successful operation on a cleft palate did however not occur until 1816. This can be explained by the fact that cleft palates were thought to be secondary to syphilis, but also because without anaesthetic this operation was extremely painful and difficult. Graefe in 1816 [20a] and Roux in 1819 [49] published the first satisfactory results. After the introduction of chloroform cleft surgery made remarkable progress. The development of cleft surgery has been chronologically described and finally the present state of affairs is discussed.

Child↗

Ciliated sensory neurons in the lip of the squid Lolliguncula brevis Blainville.

The lip of Lolliguncula brevis is a muscular fold covered by a simple columnar epithelium and overlayed medially and distally by a non-cellular cuticle. Bipolar sensory cells in the epithelium have a shallow pocket with cilia and microvilli at the free end of their dendrite. The cilia project out onto the surface through pores in the cuticle. Cells with intracellular cilia were observed below the epithelium. These cells send a process toward the surface of the lip. These two receptors are compared to the receptors previously described from the lip of Sepia.

Animals↗

Ciliated sensory cells and associated neurons in the lip of Octopus joubini Robson.

The lip of Octopus joubini is a fleshy fold around the beak that is subdivided distally into finger-like papillae and overlayed by an uninterrupted noncellular cuticle. The muscular core of the lip has a high proportion of nervous tissue. The simple epithelium contains numerous ciliated sensory cells, especially in the papillae. In many of these cells the cilia lie deep within the cytoplasm and usually appear to extend toward the surface. Receptors with intracellular cilia also lie below the epithelium and send dendrites bearing cilia to the surface. Large unipolar interneurons that may receive synapses from the ciliated receptors lie in the musculature near the papillae. The sensory system of the octopus lip is more advanced than that of the squid, and it is very similar to that of Sepia. The relationship of these findings to the phylogeny and ecology of cephalopods is discussed.

Animals↗

Aesthetic camouflage of bilateral cleft lip scars: technical revisions.

We have attempted to change the two scar lines of bilateral cleft lip repair into one zigzag scar line. The prolabium is used to push up the columella and the nasal tip. The donor site of the prolabium is closed by transposition of the nasolabial flap. The postoperative scar shows one zigzag line at the center of the lip. This method has many advantages including an inconspicuous scar, repair of the short columella and flat nasal tip, repair of a wide nose, and repair of the whistling deformity. Complications of this method are maxillary retardation, long lip deformity, and keloid formation. However, these can be avoided by modifying the method.

Adolescent↗

Procedures for repair of the cleft lip nose.

The cleft lip nose is a combination of various deformities, which should be considered in relation to the shape of the whole face. This paper deals with (1) the characteristics of the cleft lip nose; (2) time of the operation; (3) primary operative procedure; (4) secondary operative procedure; and (5) aesthetic operation for the cleft lip nose.

Cleft Lip↗

Aesthetic considerations of the cleft lip operation.

The results of a cleft lip operation are checked from the anterior, the profile, and the caudal views and even if the deformities are minimal, for aesthetic reasons they should be repaired. Philtrum length, philtrum shape, philtrum depth, nasolabial triangular area, vermilion thickness, Cupid's bow peak, horizontal upper lip groove, vermilion border, alar size, depth of alar groove, nasal deviation, nostril shape, nasal tip, columella height, sill shape, columella width, and facial balance of the anterior, profile, and caudal views are used as aesthetic checkpoints for the results of a cleft lip operation. If deformities are found, the aesthetic plastic surgeon should repair them to achieve a more satisfactory result. In addition, augmentation rhinoplasty, augmentation mentoplasty, or other craniofacial surgery may be performed.

Chin↗

Glutamate as a transmitter in the sensory pathway from prostomial lip to serotonergic Retzius neurons in the medicinal leech Hirudo.

The involvement of glutamate in putative ingestive sensory pathways affecting the excitability of serotonergic Retzius neurons (RZ) in the leech CNS was investigated with a pharmacological approach. Exposure of the prostomial lip to 150 mM NaCl and 1 mM arginine produced excitatory as well as inhibitory responses in RZ found in the reproductive segments, while only excitatory responses were elicted in standard midbody RZ. Antagonists of glutamatergic receptors of the kainate/quisqualate type effectively inhibited chemosensory dependent excitation of RZ. Antagonists of glutamatergic receptors of the N-methyl D-aspartate type were ineffective in this regard. Cephalic nerve stimulation, like chemical stimulation of the lip, produced segment-specific responses in midbody RZ. Both the polysynaptic and monosynaptic components of the excitatory response of standard midbody RZ following cephalic nerve stimulation were inhibited in the presence of the kainate/quisqualate antagonist DNQX. These data suggest a role for glutamate as a transmitter in the neural circuitry from receptors of the leech prostomial lip to serotonergic RZ.

Animals↗

Evaluation of speech disorders in children with cleft lip and palate.

BACKGROUND: We investigated the reliability of nasopharyngoscopy and auditory perception, two common clinical methods employed in examining the speech pathology of children with cleft lip and palate. PATIENTS AND METHODS: Nasopharyngoscopy was performed to assess velopharyngeal closure function and nasopharyngeal morphology. The auditory examination evaluated nasality and other speech disorders such as articulatory tension, shift in articulation, and sigmatism. The study was based on the audio and video recordings of twelve patients (9.5 +/- 0.5 years) after surgical rehabilitation of their cleft lip and palate. The speech sample consisted of reading a standardized sequence of words. The recordings were analyzed by several examiners with different experience in the evaluation procedure at two time-points. Inter-rater and intra-rater reliability was determined by Cohen's Kappa coefficient and by estimation of the 95% intervals of confidence. RESULTS: Analysis of the visual and auditory-perceptual findings by the experienced raters was highly reliable. However, the less experienced raters' results showed greater variability, as did morphological evaluation in both groups. Comparison between visual and auditory evaluations concerning hypernasality resulted in little correlation. CONCLUSIONS: These two subjective methods of evaluation are recommended because of their high reliability with experienced raters. Our results suggest that "experience" is an essential criterion in determining the structural quality of the morphological and functional assessment of typical speech pathologies in children with cleft lip and palate. In addition, the data demonstrate the necessity of special multidisciplinary rehabilitation teams in so-called cleft centers.

Child↗

[The moat technique. A two-step surgical technique for extensive basal cell carcinomas of the lip].

Surgery of large basal cell carcinomas (BCC) in problematic locations is sometimes challenging. A two-step surgical treatment of extensive BCC of the upper lip with the moat technique as an alternative to temporary wound closure will be illustrated using the example of two patients: In the first step, only the safety margin around the tumor is removed. After micrographic examination proves the lateral margins to be tumor-free, the tumor itself with all layers of the upper lip is removed in a second step. The defect is then closed with advancement flaps. If tumor resection does not involve all layers, the histopathologic interpretation of the base is first possible after complete surgical closure. The moat technique offers several advantages: The infection risk is minimized and the patient can eat and drink with an intact lip while resection margins are processed overnight. Tumor-free tissue is spared through the step-by-step procedure; the extent of plastic surgery is thus reduced and good functional and cosmetic results can be achieved. In addition, the perioperative period is less complicated.

Adult↗

Movement-related skin strain associated with goal-oriented lip actions.

It is generally accepted that sensory input contributes to the generation of natural movements. In most motor systems, muscle spindles, tendon organs, joint receptors, and cutaneous mechanoreceptors may provide proprioceptive information. However, the perioral area of the human face lacks muscle spindles, tendon organs, and joint receptors and is therefore a model system for the study of cutaneous afferent contributions to proprioception. This investigation examined a series of skin strains associated with lower-lip movements in human subjects to determine if such strains, which serve as stimuli for cutaneous mechanoreceptors, may underlie proprioception in the face. The results suggested that strains associated with lower-lip movements were of sufficient magnitude to elicit cutaneous mechanoreceptor discharge, as shown in recent human microneurographic studies. Further, the magnitude of multiple strains was predictive of lower-lip movement endpoints. These results highlight the potential importance of cutaneous mechanoreceptors as putative proprioceptors.

Adult↗

Dynamics of intergestural timing: a perturbation study of lip-larynx coordination.

In this study, downward-directed mechanical perturbations were applied to the lower lip during both repetitive (/...paepaepae.../) and discrete (/pe'saepaepl/) utterances in order to examine the perturbation-induced changes of intergestural timing between syllables (i.e., between the bilabial and laryngeal gestures for successive /p/'s) and within phonemes (i.e., between the bilabial and laryngeal gestures within single /p/'s). Our findings led us to several conclusions. First, steady-state (phase-resetting) analyses of the repetitive utterances indicated both that "permanent" phase shifts existed for both the lips and the larynx after the system returned to its pre-perturbation rhythm and that smaller steady-state shifts occurred in the relative phasing of these gestures. These results support the hypothesis that central intergestural dynamics can be reset by peripheral articulatory events. Such resetting was strongest when the perturbation was delivered within a "sensitive phase" of the cycle, during which the downwardly directed lower-lip perturbation opposed the just-initiated, actively controlled bilabial closing gesture for /p/. Although changes in syllable duration were found for other perturbed phases, these changes were simply transient effects and did not indicate a resetting of the central "clock." Second, analyses of the transient portions of the perturbed cycles of the repetitive utterances indicated that the perturbation-induced steady-state phase shifts are almost totally attributable to changes occurring during the first two perturbed cycles. Finally, the transient changes in speech timing induced by perturbations in the discrete sequences appeared to share a common dynamical basis with the changes to the repetitive sequences. We conclude by speculating on the type of dynamical system that could generate these temporal patterns.

Adult↗

Why is lip augmentation with autologous fat injection less effective in the vermilion border?

Lip augmentation is a well tolerated procedure leading to a more youthful appearance. Augmentation of lips is most frequently performed with autologous tissue, biomaterials, or alloplastic materials. Autologous fat grafting is a simple procedure because of the ease of harvesting and subsequent injection into selected sites. Fat injection is suitable for the bulk of the red lips, but is less effective for the vermilion border. This study was performed to determine why fat injection is less effective for the vermilion border.

Adipose Tissue↗

Relationship between tip nasal muscles and the short upper lip.

Since 1993 the authors have been using a new approach to the treatment of the muscles intimately related with the nasal tip and the upper lip, today known as dynamic rhinoplasty. With the idea of improving the dorsum-tip-labial relationship, the dynamic rhinoplasty technique is based on performing an intraoral zetaplasty at the labial frenum, allowing the access to the local musculature, represented by the depressor septi nasi muscle and its three fascicles. Next, we perform a subperiosteal undermining of the medial bundles, releasing them from the lower nasal spine, followed by the treatment of the intermedial bundles (which substitute the former by the special kind of plication at the median line, according to the primary characteristics of the upper lip). Initially, we used the new method only for the treatment of negroid nose or for cases of exuberant droopy nasal tip. Today, with improvements in the surgical technique, it is possible to operate on almost any kind of nasolabial combination, including mouth-breather patients and even cases with long upper lip and upright nose tip. Thus, the authors have established a semiotic classification, discussing both surgical indication and technique, and also showing the importance of combining several surgical stages (septoplasty, dynamic rhinoplasty, rhinosculpture, and turbinectomy) involved in each group.

Facial Muscles↗

Lip rejuvenation using chemical abrasion and padding with expanded polytetrafluoroethylene implants.

Aesthetic improvement of the lips is a problem that must be treated in a totally independent way from the rest of the face because degeneration of the lips is tied to genetic or acquired factors for which no long-term procedure is effective. The effectiveness of resurfacing of large and small wrinkles using chemical abrasion has long been recognized. Labial padding, using supple Gore-Tex(R) implants that are cut to size and placed where necessary provides the desired result while preserving the function of the lip. Usually requested by the younger patient, it can be used in combination with chemical abrasion in the more mature patient. This technique is not only quick, tested, very effective, and definitive, but totally reversible if needed, which allows us to widen the indications with great safety.

Adult↗

Presacral donor site for lip augmentation.

For over a century surgeons have been in search of the perfect tissue filler. In recent years lip augmentation has become quite popular. Despite the numerous methods employed to enhance the fullness of lips, autogenous free dermal fat grafting (FDFG) still remains a preferred method. FDFG has been extensively investigated clinically as well as histologically. However, despite its efficacy, FDFG has failed to gain widespread clinical acceptance. One reason has been concern about donor-site morbidity. In this paper, we describe a method of lip augmentation, which utilizes a dermal fat graft from the presacral region. This site is optimal because it has thick skin with minimal hair follicles and leaves a minimal scar.

Adipose Tissue↗

[CleftData. Program for minimal documentation of lip-jaw-palate clefts].

BACKGROUND: The aim of the German Study Group on Cleft Lip and Palate-Craniofacial Deformities is to develop a precise system for documentation of cleft lip and palate patients which is suitable for use in PC-databases. DOCUMENTATION: In cooperation with the medical disciplines involved in the therapy such as otolaryngology, oral and maxillofacial surgery, orthodontics and speech therapy a system of documentation was developed with regard to the international classification of diseases (ICD) and the operating procedures system (OPS). Malformations are classified with the LAHS coding system. In addition to this concept of minimal documentation photographic images in standardized projections are stored. Furthermore, each operative procedure is documented by its date and the anatomic region of malformation treated without details of operative methods or descriptions of other procedures. SOFTWARE: On behalf of the German Study Group on Cleft Lip and Palate a software to meet these purposes was developed called CleftData. Based on a relational Access database it is equipped with SQL connectivity enabling its use on all hard- and software-systems.

Cleft Lip↗