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PubMed2005

Part 1. Understanding the embryology and genetics of cleft lip and palate.

Craniofacial birth defects are the fourth most common congenital anomaly in newborns. Cleft lip and cleft palate (CL/CP) are the most common and immediately recognizable craniofacial anomalies. Some are diagnosed prenatally on ultrasound; more often, they are first noted in the delivery room. The infant may have a cleft that is unilateral, bilateral, complete, or incomplete, and it may involve the lip only, the palate only, or both. Cleft lip and/or cleft palate are often isolated nonsyndromic occurrences; however, when associated with other abnormal physical findings, a recognizable syndrome may be present. Part 1 of this 2-part article describes the incidence of CL/CP. The embryology of the face, lip, and palate are reviewed to enhance the understanding of the timing, complexity, and factors that may influence the development of this lesion. The emerging genetic links, environmental influences, and potential teratogens that may interact to contribute to CL/CP are discussed. Part 2 of this series will provide clinicians with tools to perform a focused risk assessment and obtain a detailed family and pregnancy history to evaluate for known associated risk factors for CL/CP. The article provides a guide for a systematic physical examination of infants with CL/CP. Careful assessment for other midline defects or physical findings consistent with associated syndromes is also discussed. Pictorial examples of a variety of forms of CL/CP are provided to enhance understanding of the spectrum of this defect. Treatment and long-term complications of CL/CP are reviewed with an emphasis on family support, identifying educational resources, and counseling.

Cleft Lip↗

PubMed2004

A comparison of the effects of the Latham-Millard procedure with those of a conservative treatment approach for dental occlusion and facial aesthetics in unilateral and bilateral complete cleft lip and palate: part I. Dental occlusion.

The purpose of this study was to compare the effect of the Latham-Millard presurgical orthopedics, gingivoperiosteoplasty, and lip adhesion protocol with conservative treatment (nonpresurgical orthopedics without gingivoperiosteoplasty) for palatal and dental occlusion in complete bilateral and complete unilateral cleft lip and palate. All patients were from the South Florida Cleft Palate Clinic. A retrospective dental occlusal study was conducted using serial dental casts that had been taken of patients from birth to 12 years of age. All surgical procedures, except for the secondary alveolar bone grafts in the conservative, nonpresurgical orthopedics group, were performed by D. Ralph Millard, Jr. Ralph Latham supervised the presurgical orthopedics cases. Samuel Berkowitz collected and analyzed all the serial records from 1960 to 1996. Among the patients with complete unilateral cleft lip and palate, 30 patients were treated with presurgical orthopedics, gingivoperiosteoplasty, and lip adhesion (the Latham-Millard protocol) and 51 patients were treated conservatively (i.e., nonpresurgical orthopedics without gingivoperiosteoplasty). Among the patients with complete bilateral cleft lip and palate, 21 patients were treated with the Latham-Millard protocol and 49 patients were treated conservatively. Conservative treatment was performed between 1960 and 1980. In patients with bilateral cleft lip and palate, a head bonnet with an elastic strip was used to ventroflex the protruding premaxilla. In all patients (unilateral and bilateral cleft), lip adhesion was performed at 3 months followed by definitive lip surgery at 6 to 8 months and palatal cleft closure between 18 and 24 months of age, in most cases. The Latham-Millard procedure was performed from 1980 to 1996; in bilateral cleft patients, it involved the use of a fixed palatal orthopedic appliance to bodily retract the protruding premaxilla and align it within the alveolar segments soon after birth. In all patients (unilateral and bilateral cleft), palatal alignment was also followed by gingivoperiosteoplasty and lip adhesion. Definitive lip surgery was performed between 6 and 8 months of age, and palatal closure was performed between 8 and 24 months of age using the von Langenbeck procedure with a modified vomer flap. All of the study participants had cleft lips and palates of either the unilateral or bilateral type; the unilateral and bilateral groups were further subdivided based on whether they had received the Latham-Millard protocol or the conservative treatment. It was then determined how many in each of these four basic groups had either anterior or buccal crossbites at four different age levels, when they were approximately 3, 6, 9, and 12 years of age. Although several children entered the study at or just before age 6, every patient in the 9-year-old and 12-year-old sample groups had been in the 6-year-old group and all of the 12-year-olds had been included in the immediate preceding age sample. Two-by-two chi-square tests were carried out within each cleft type (unilateral or bilateral) at each of the four age levels separately, to test whether the treatment groups (protocol versus conservative) differed in the frequency of cases with a given kind of crossbite (rather than not having that kind of crossbite). At every age level, a greater percentage of patients treated with the Latham-Millard protocol developed crossbites than did those treated more conservatively. This difference existed for both the anterior and buccal crossbites and for both unilateral and bilateral clefts. Chi-square tests of the treatment differences in crossbite frequency showed that in three quarters of the Latham-Millard protocol versus conservative treatment comparisons (12 out of 16), a significantly greater frequency of crossbite cases occurred after the Latham-Millard protocol treatment as compared with after the conservative procedure. The chi-square values for the differences in outcome between the two kinds of treatment procedures were greater for the anterior crossbites than for the buccal crossbites, suggesting that the Latham-Millard protocol, relative to the conservative method, was more likely to have an adverse effect on the anterior crossbites than on the buccal crossbites. For those patients born with a bilateral cleft, the differences in crossbite frequency between the protocol and the conservative treatment were statistically significant for patients with an anterior crossbite but not for patients with a buccal crossbite. The analysis shows that in complete bilateral and unilateral cleft lip and palate, the frequency of the anterior crossbite and (except for ages 3 and 12) the buccal crossbite is significantly higher with the Latham-Millard presurgical orthopedics, gingivoperiosteoplasty, and lip adhesion protocol compared with the conservative, nonpresurgical orthopedics without gingivoperiosteoplasty treatment. The exception in the bilateral buccal case may be attributed to the small experimental sample size, which brings down the confidence level.

Alveolar Process↗

PubMed2004

Craniofacial variability and morphological integration in mice susceptible to cleft lip and palate.

A/WySnJ mice are an inbred strain that develops cleft lip with or without cleft palate (CL/P) with a frequency of 25-30% and a predominantly unilateral expression pattern. As in humans, the pattern of incomplete penetrance, and variable and frequent unilateral expression suggests a role for altered regulation of variability (developmental stability, canalization and developmental integration) during growth. We compared both mean and variability parameters for craniofacial shape and size among A/WySnJ mice, a strain that does not develop CL/P (C57BL/6J) and their F1 cross. We show that adult A/WySnJ mice that do not express cleft lip exhibit decreased morphological integration of the cranium and that the co-ordination of overall shape and size variation is disrupted compared with both C57BL/6J mice and the F1 cross. The decrease in integration is most pronounced in the palate and face. The absence of this pattern in the F1 cross suggests that it is determined by recessive genetic factors. By contrast, the shape differences between the strains, which are thought to predispose A/WySnJ mice to CL/P, show a range of dominance which suggests a polygenic basis. We suggest that decreased integration of craniofacial growth may be an aetiological factor for CL/P in A/WySnJ mice.

Animals↗

PubMed1992

Immediate unrestricted feeding of infants following cleft lip and palate repair.

Postoperative feeding regimens after cleft lip and palate repair continue to be a controversial issue. This study was designed to test the feasibility of immediate unrestricted feeding after lip and palate closure with attention to operative outcome or complications. A retrospective analysis of two feeding protocols involved 80 infants with both unilateral and bilateral defects. Protocol A utilized tube and syringe feedings, and protocol B utilized unrestricted bottle or breast feedings. There were no instances of lip or palate wound complications in the unrestricted group. We conclude that immediate unrestricted feeding may be instituted safely, thus improving and simplifying postoperative management after cleft lip and/or palate repair.

Bottle Feeding↗

PubMed1989

A study of etiologic factors for cleft lip and palate in Sri Lanka.

Fifty-eight infants with cleft lip and/or cleft palate detected in a prospective study and 443 cleft patients in a retrospective study were investigated regarding seasonal variation of incidence, relation to birth rank, consanguinity of parents, and history of viral infections and drugs taken by mothers during the first trimester of gestation. The highest incidence was recorded in the month of April, but no reason for this could be found. No significant relation to birth rank and consanguinity of parents existed. Furthermore, the proportion of mothers of cleft patients who had taken drugs or who had viral infections was not significantly greater than in the control groups. These findings support the view that orofacial clefts probably have a multifactorial etiology.

Birth Order↗

PubMed1995

Dermatography as an adjunctive treatment for cleft lip and palate patients.

PURPOSE: To investigate dermatography as a treatment for cleft lip and palate. METHODS: The results of the treatment of 19 cleft lip patients with discoloration of scars and the vermillion border after secondary cleft lip and palate surgery by dermatography and intracicatricial keloidectomy are described. RESULTS: This group of patients has gained self-confidence after treatments, to the extent that their articulation has improved. CONCLUSION: Dermatography can be applied as an adjuvant treatment with good cosmetic and esthetic results.

Carbon↗

PubMed2002

An anthropometric analysis of indices of severity in the unilateral cleft lip.

The aim of this study was to analyze the relationships among three key anthropometric parameters in the unilateral cleft lip to determine the correlations, if any, among these indices of severity. Using a standardized anthropometric documentation protocol, preoperative measurements of 125 unilateral cleft lips (103 complete and 22 incomplete) were performed under general anesthesia by a single surgeon at the time of primary lip repair at the age of 3 months. The following key measurements were analyzed statistically: (1) the philtral height difference (PHD) between the cleft and noncleft sides, (2) the nasal floor width difference (NFWD) between the cleft and noncleft sides, and (3) the cleft width (CW). The mean values of all three indices were greater in the complete group versus the incomplete group. These differences were statistically significant. Linear relationships were obtained between NFWD and GAP, between PHD and GAP, and between PHD and NFWD in the complete group. In contrast, the relationships between PHD and GAP, and between PHD and NFWD were nonlinear in the incomplete group. These findings suggest that there was a strong correlation between the transverse and vertical tissue deficiencies in the complete cleft lip. In incomplete clefts, however, this correlation did not exist. In other words, the incomplete cleft lip can be associated with a severely short philtrum even in the presence of a relatively mild transverse tissue deficit. Therefore, it is not necessarily easier to repair an incomplete cleft lip in terms of the correction of the vertical tissue deficiency.

Cephalometry↗

PubMed1999

[A study of individual operation designs for unilateral cleft lip repair].

OBJECTIVE: To formulate a reasonable and effective individual operation design that can be adaptable to various forms of deformity of unilateral cleft lip. METHODS: The unilateral deformity of unilateral cleft lip was classified into four types (Type I, II, III, IV) according to the distances from the midpoint of the base of columella and the points of alar bases respectively to cupid's bow peaks of both sides. Furthermore, according to the characteristics of deformity, four types of operation were designed respectively under the standard of making both cupid's bow peaks along cleft drop in the same levels, and the essentials were restoring and making the distances from the midpoint of the base of columella and the points of alar bases to both cupid's bow peaks symmetric. RESULTS: Type I operation was almost the same as the Millard's operation design, and the basic designs of Type II and Type IV operation were also the same as the Millard's operation design, but were combined with the Tennison's operation design. Type III operation was a new operation design of unilateral cleft lip repair. CONCLUSION: The individual operation design in unilateral cleft lip repair should be definitely according to the characteristics of cleft lip deformity.

Cleft Lip↗

PubMed1995

Longitudinal study on the changes of maxillary arch dimensions in Japanese children with cleft lip and/or palate: infancy to 4 years of age.

The focus of this study was an analysis of maxillary arch growth changes prior to the time of cheiloplasty up to 4 years of age. Serial dental casts were obtained and measured in 95 children with cleft lip and palate, or both: 7 unilateral cleft lip and alveolus (CLA), 52 unilateral cleft lip and palate (UCLP), 24 bilateral cleft lip and palate (BCLP), and 12 isolated cleft palate (CP). The children were treated at the Kyushu University Dental Hospital. The results are as follows: (1) Prior to cheiloplasty, the maxillary buccal segments in the subjects with cleft lip and palate showed lateral displacement. The premaxilla in BCLP subjects was protruded. (2) Cheiloplasty influenced maxillary anterior arch width, but not posterior width. The operation caused posterior displacement of the premaxilla in BCLP subjects. (3) Palatoplasty affected the growth of the maxillary arch in the transverse and anteroposterior dimensions. (4) A variety of growth patterns observed in the patients (e.g., increasing or decreasing of the maxillary arch dimensions) suggests that maxillary arch dimensions were affected not only by surgery, but also by other individual factors such as genetic facial pattern and severity of the cleft.

Alveolar Process↗

PubMed1992

Results of multidisciplinary management of bilateral cleft lip and palate at the Iowa Cleft Palate Center.

Bilateral cleft of the lip and palate is by many standards the most complex and severe form of the defect. The complexity and severity of the defect require an unusual degree of cooperation among all specialists and especially between the surgeon and the orthodontist. There are no published findings that we know about in which comprehensive data from a number of disciplines are reported for the same group of bilateral cleft patients. Fifty randomly selected patients with bilateral complete clefts were examined by the Iowa team and two orthodontists from other institutions. The evaluations revealed that a large number of patients over the age of 10 have multiple residual problems requiring further treatment. Only 23 percent of the older patients studied were judged to have had treatment completed by the surgeon, speech pathologist, and orthodontist. It is very difficult to state whether the results obtained by our team can be considered satisfactory because there are no comparable studies that have attempted to evaluate the same parameters in multidisciplinary management.

Adolescent↗

PubMed2001

Prenatal ultrasonography and the diagnosis of fetal cleft lip.

OBJECTIVE: To determine the efficacy of obstetric ultrasonography in the detection of fetal cleft lip. METHODS: The study population included all women who had a fetal anatomic survey with adequate visualization of the face and who gave birth at Brigham and Women's Hospital between January 1, 1990, and January 31, 2000. All neonates born with cleft lip were identified from the Brigham and Women's Active Malformation Surveillance Program. Confirmation of the anatomic defect was obtained from the pediatric record or from the pathologic report if the pregnancy was terminated or ended in miscarriage. Cases of isolated cleft palate were excluded. An ultrasonography database was used to identify all cases of cleft lip diagnosed before delivery. Maternal information regarding the pregnancy was abstracted from the medical record. Statistical significance was determined using the chi2 statistic for categorical variables and the t test for continuous variables. RESULTS: A total of 56 confirmed cases of cleft lip were identified in the study population. Overall, 73% of the cases (41 of 56) were identified antenatally. Additional fetal anomalies were present in 54% of the cases (30 of 56). A comparison between those cases that were detected and those in which the diagnosis was missed showed that there was a significantly lower detection rate if the ultrasonography was performed before 20 weeks (12 [57%] of 21 versus 29 [83%] of 35; P = .035). There was no difference between the 2 groups in terms of maternal age or weight. Maternal parity, prior maternal abdominal surgery, the presence of a multiple gestation, or coexisting fetal anomalies did not significantly affect the detection rate. There was no difference in detection rate in the first half of the study period (1990-1995; 23 [72%] of 32) compared with the second half (1996-2000; 18 [76%] of 24; P = .79). CONCLUSIONS: In this cohort of women, the rate of detection of fetal cleft lip was significantly lower when the anatomic survey was performed before 20 weeks' gestation. This difference could not be accounted for by such variables as prior maternal abdominal surgery, coexisting fetal anomalies, or improvements in ultrasonographic detection with time. We recommend that the anatomic survey for fetuses at high risk for this condition be performed after 20 weeks' gestation.

Cleft Lip↗

PubMed2006

Exploring parental reactions to the diagnosis of cleft lip and palate.

The birth of an infant with a facial cleft evokes a range of emotions and reactions in parents. During acceptance of a child's disability, parents are said to progress through several stages similar to those responses reported in the bereavement process. This paper describes the process of adapting in terms of personal construct theory, and reports a pilot of the repertory grid technique as a therapeutic tool to elicit parental reactions following diagnosis of cleft lip and palate. Two mothers compared other significant life events to their reactions to the diagnosis of cleft lip and palate. This pilot supported the use of the repertory grid technique as a means to facilitate exploration of parental responses. Comparisons to the bereavement process were evident, although individual reactions or perceptions may differ from those expected. Recommendations are made for a wider research study within cleft lip and palate.

Adaptation, Psychological↗

PubMed2006

Conversational skills of children with cleft lip and palate: a replication and extension.

OBJECTIVE: To replicate and to extend a previous study examining the conversational skills of children with cleft lip and palate. PARTICIPANTS: Thirty-four children (33 to 44 months) participated: 17 children with cleft lip and palate and 17 noncleft children. METHODS: The children were observed during an interaction with caregivers in their homes. Samples of caregiver-child interactions were coded as assertive or responsive, for type of conversational act, and for discourse level categories. Profiles of conversational activity were determined for each child based on the coding. Correlations were performed to examine the relationship between assertiveness and speech variables (articulation and resonance) for the children with cleft lip and palate. RESULTS: Group comparisons revealed that the children with cleft lip and palate produced fewer assertive utterances, were less likely to respond adequately to comments by caregivers, and produced more topic maintaining and fewer topic extending utterances than did their noncleft peers during conversational interactions. Examination of individual child data indicated that 35% of the children with cleft lip and palate exhibited conversational profiles characterized by either low assertiveness or low responsiveness. Finally, a significant positive correlation was noted between conversational assertiveness and speech production skills. CONCLUSION: These findings suggested that the children with cleft lip and palate were less conversationally assertive than their noncleft peers. Further, there appeared to be a relationship between speech production skills and conversational skills, suggesting that poor speech may be impacting language performance for these children.

Assertiveness↗

PubMed1998

Comparison of craniofacial and dentoalveolar morphologies of three Japanese monozygotic twin pairs with cleft lip and/or palate discordancy.

OBJECTIVE: In this study, we analyzed the craniofacial and dentoalveolar morphologies of three pairs of monozygotic twins discordant for cleft lip and/or palate (CL/P) in order to evaluate the effects of environmental factors on growth and development. DESIGN: Craniofacial and dentoalveolar morphologies revealed by analyses of cephalograms and dental casts were compared for each pair of twins discordant for CL/P. SUBJECTS: In case 1, the subjects were 10-year-old male twins, one of whom had a repaired unilateral cleft lip and alveolus and one of whom had an unrepaired unilateral cleft lip. In case 2, the subjects were 13-year-old female twins, one of whom had a repaired bilateral cleft lip and palate and one of whom had an unrepaired unilateral cleft lip. In case 3, the subjects were 9-year-old female twins, one of whom had a repaired unilateral cleft lip and palate and one of whom had no cleft. RESULTS: Cephalometric analysis disclosed distinguished intrapair differences in the maxillary and mandibular morphologies in cases 2 and 3. However, the tooth axes of the incisors in operated subjects were consistently influenced in all three cases. Dental cast analysis indicated that the shapes and sizes of the alveolar and dental arches in the operated subjects were affected in case 2 and, more severely, in case 3, while they looked fairly similar in case 1. CONCLUSIONS: Cephalometric and dental cast analyses demonstrated characteristic intrapair differences between the twins discordant for CL/P according to each cleft type. These morphological differences indicate that surgical closure of clefts may have considerable effects on craniofacial and dentoalveolar growth and development in CL/P patients.

Adolescent↗

PubMed1990

Primary unilateral cleft lip repair without primary rhinoplasty. A preliminary report.

A primary unilateral functional lip-plasty has been developed to improve the appearance of the asymmetrical nasal deformity and that of the lip scar in the cleft lip. A triangle is dissected from the lesser segment with the base located at the nasal alar base. The latter is rotated superior-horizontally and positioned at a semicurved release incision which is inferior to the columella. This C-junction of the nostril sill allows an alignment of the nasal structure without a primary rhinoplasty.

Cleft Lip↗

PubMed2004

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.

Anthropometry↗

PubMed1991

Pseudoprognathism--an auxiliary ultrasonographic sign for transvaginal ultrasonographic diagnosis of cleft lip and palate in the early second trimester.

Cleft lip and palate have been diagnosed antenatally only in the late midtrimester or at later gestational ages, when it is too late for pregnancy termination. The diagnosis of fetal cleft lip was made in three low-risk nulligravid women at 14 to 16 weeks of gestation by systematic screening with a 6.5 MHz transvaginal transducer and was confirmed by postabortal examination.

Adult↗

PubMed2003

Treatment of scars with Er:YAG laser in patients with cleft lip: a preliminary report.

OBJECTIVE: Although one goal in cleft lip surgery is to avoid serious scarring, residual scars are often observed after primary surgery. The goal of this preliminary report was to present the standardized application of laser technology to reduce the appearance of residual scars. DESIGN: Ten patients with scarring after unilateral and bilateral cleft lip surgery were treated with a Dual Mode erbium yttrium-aluminum-garnet laser. This laser was recently introduced and had been used only for cosmetic applications, skin resurfacing, and correction of acne scars. RESULTS: An improvement in the clinical appearance of the laser-treated scars was observed after the first treatment, with continued improvement after the second laser session. The clinically observed improvements were corroborated by the patients' reports concerning satisfaction with the result. CONCLUSIONS: The combined mechanisms of ablation/coagulation and shrinking of the skin caused by the laser, in addition to observed patient satisfaction and low risk associated with the procedure, suggest that this treatment approach can be effective in the correction of residual scarring in patients with cleft lip.

Adult↗