Cleft Palate Malformations Research Articles

An MRI Case Study: The Anatomic Cleft Restoration Concept Utilizing Buccal Flaps in a Primary Palatoplasty

Purpose: Primary palatoplasties using the Anatomic Cleft Restoration Philosophy uses the buccinator myomucosal flap (buccal flap) as the major tissue replacement flap to correct the tissue deficiency within the cleft palate malformation. The surgical approach aims to close the palate without tension, lengthen the palate, reconstruct the levator muscular sling, not inhibit craniofacial growth and achieve proper resonance for speech. The purpose of this study is to present preliminary data on velopharyngeal variables to demonstrate the muscle and tissue morphology in adults with cleft palate who have not received a secondary surgery for speech or orthognathic surgery. Methods: Magnetic resonance imaging was used to analyze velopharyngeal variables for 2 individuals with the buccal flap approach and 2 individuals who received a traditional cleft palate repair. Linear measurements were obtained and 2 velopharyngeal ratios were calculated. Results: All variables were compared to previously published normative data of velopharyngeal variables for individuals with non-cleft anatomy who are of the same race, sex, and of similar age. The individuals with the buccal flap approach presented with a similar velar length and levator length in comparison to individuals with non-cleft anatomy. The individuals with the buccal flap approach presented with a longer effective velar length and velar length in comparison to individuals with a traditional cleft palate repair. Visually, the individual with the buccal flap presents with a thicker tissue mass between the hard and soft palate junction. Conclusions: In this case study, individuals who received a primary palatoplasty with the buccal flap approach presented with a longer velum and effective velar length in comparison to individuals with a traditional cleft palate repair and those with non-cleft anatomy. This study highlights the utility of using magnetic resonance imaging to quantify the changes that occur to the velopharyngeal anatomy following the buccal flap surgical approach.

An Magnetic Resonance Imaging Case Study: The Anatomic Palate Restoration Concept Utilizing Buccal Flaps in a Primary Palatoplasty

BACKGROUND: Primary palatoplasties using the Anatomic Palate Restoration Concept use the buccinator myomucosal flap (buccal flap) to correct the tissue deficiency within the cleft palate malformation. Buccal flaps are used to replace the missing tensor veli palatini aponeurosis and mucus membrane. The surgical approach aims to close the palate without tension, lengthen the palate, reconstruct the levator muscular sling, not inhibit craniofacial growth and achieve proper oral-nasal resonance for speech.1,2 To the best of our knowledge, this is the first study to use magnetic resonance imaging (MRI) to demonstrate the changes that occur to the velopharyngeal anatomy following the surgical repair. The purpose of this study is to present preliminary data on velopharyngeal variables to demonstrate the muscle and tissue morphology in adults with cleft palate who have not received a secondary surgery for speech or orthognathic surgery. METHODS: MRI was used to analyze velopharyngeal variables for a single participant. The participant was a 19-year-old Caucasian male with a unilateral cleft lip and palate who received primary palatoplasty using the buccal flap approach. MRI data were viewed in Amira 6.5.0 Visualization Modeling software. Velopharyngeal measurements were obtained on the midsagittal image. RESULTS: All variables were compared to previously published normative data of velopharyngeal variables for individuals with noncleft anatomy who are of the same race, sex, and of similar age.3 Velar length and velar thickness were both greater in the individuals with the buccal flap repair, in comparison to the individuals with noncleft anatomy. Levator length and the distance from the PNS to PPW were both shorter in the individual with the buccal flap repair. Visually, the individual with the buccal flap presents with a thicker and longer velum. CONCLUSIONS: This study is the first to demonstrate the velopharyngeal muscle and tissue arrangement following primary palatoplasty using the buccal flap approach. The individual presents with a longer and thicker velum in comparison to age- and sex-matched individuals with noncleft anatomy. This study highlights the utility of using MRI to quantify the changes that occur to the velopharyngeal anatomy following the buccal flap surgical approach. Future studies should assess how these anatomical changes impact speech and compare data to Z-Plasty without the use of the buccal flap repair and to individuals with noncleft anatomy. Our research team is currently investigating this line of research and specifically seeking to improve our understanding of the functional impact of this surgical method on speech. REFERENCES: 1. Mann RJ, Fisher DM. Bilateral buccal flaps with double opposing Z-plasty for wider palatal clefts. Plast Reconstr Surg. 1997;100:1139–1143. 2. Mann RJ, Martin MD, Eichhorn MG, et al. The double-opposing Z-plasty plus or minus buccal flap approach for repair of cleft palate: a review of 505 consecutive cases. Plast Reconstr Surg. 2017;139:735e–744e. 3. Perry JL, Kollara L, Sutton BP, et al. Growth effects on velopharyngeal anatomy from childhood to adulthood. J Speech Lang Hear Res. 2019;62:682–692.

A study of anaesthetic management of cleft lip and palate surgery in children

Introduction: Anaesthetic management in paediatric patient can present anatomically and physiologically challenges to the anaesthetics. Therefore, surgery of cleft lip and palate in children will require careful consideration and thorough knowledge and clinical application in preparation by the anaesthetics as they are not miniature version of adults. Objective: To evaluate the anaesthetic outcomes including pre-operative selection of cases, intra-operative and post-operative complications in children underwent cleft lip and palate surgery. Materials and Methods: 30 patients of cleft lip and/or cleft palate malformation scheduled for surgical repair under general anaesthesia at plastic surgery unit of tertiary care teaching hospital were selected for the study. All patients with age more than 3 months; weight more than 5 kg; no history of URTI / fever; normal chest x-ray; and leukocyte count less than 10000/cum, were included in the study. The patient’s haemoglobin less than 10 gm% were excluded from the study. Results: A majority of patients (22, 73.33%) belonged to less than 3 years of age. Patients were divided in 2 groups with 15 patients in each group according to induction technique. Group I which was induced by inhalation technique with Oxygen, Nitrous Oxide and Halothane and group II which were induced by intravenous Ketamine and Succinylcholine. Intubation was difficult in one patient of Group II. Increased intratracheal secretion occurred in 2 patients of Group II. Laryngospasm was found in 1 case of group II and there was also vomiting in 1 case of group II. Conclusion: A favourable outcome can be expected in cleft lip and palate surgery in children by adequate understanding of the anatomy, physiology, and psychology of the paediatric patients; and proper selection and through pre-operative assessment and preparation. Keywords: Cleft lip and palate, Laryngospasm, Vomiting, Anaesthetic management.

Evidence of LEF1 Fetal-Maternal Interaction in Cleft Lip with or without Cleft Palate in a Consistent Italian Sample Study

Epithelial mesenchymal transformation is considered a cardinal process in orofacial development. Several molecular players appear to be involved in this delicate mechanism; the activation of LEF1 transcription factor by transforming growth factor beta 3 seems to be a key step for the correct flow of events. The failure of orofacial processes during embryonic development may provoke cleft lip and/or cleft palate malformations. The scope of the present investigation was to verify whether genetic variants at LEF1 could influence the risk of orofacial clefting. The approach was a family based association study involving a total of 512 Italian patients and their parents, 401 having cleft lip with or without cleft palate (CL/P) and 111 with cleft palate only (CPO). Haplotype association analysis provided moderate evidence of an association with clefting (p 0.01). A log-linear likelihood-based method was used to verify maternal and foetal-maternal association. An association between the maternal genotype and the occurrence of CL/P was observed at two polymorphic loci, at rs10022956 (P = 0.0049) and rs10025431 (P = 0.0065) respectively, while a foetal-maternal effect modulating the risk of clefting was found at locus rs10025431 (P = 0.0071). These data further corroborate the importance of the mother's genotype with regard to susceptibility to malformations and early-onset diseases.

55 GENETIC ANALYSIS OF FACIAL CLEFTS

The study included 1499 families with at least one child affected with cleft lip± palate (CL±p) or cleft palate (CP). The families were ascertained in Southern Poland by multiple selection with probability φ = 0.949 and φ = 0.737, respectively. Complex segregation analysis was applied in an attempt to discriminate between the hypotheses of two alleles from single autosomal locus and that of multifactorial inheritance. The empiric recurrence risk of CL±p and CP equalled: 1.6 ± 0.66 and 0.93 ± 0.75, respectively. The heritability was: 54.8% (CL±p) and 52.8% (CP). The complex segregation analysis of CP did not distinguish between recessive model with incomplete penetrance (x2 = 18.27) and that of multifactorial inheritance ( x2 = 20.38). For CL±p, the most plausible hypothesis ( x2 = 16.86) appeared to be that of dominant inheritance with low penetrance (t = 0.277) and relatively high frequency of phenocopies (x = 0.683). The above models with the lowest x2 were used for computation of more precise recurrence risk figures for genetic counseling. Presented results warrant further investigations on the genetic background of craniofacial anomalies. Future studies should concentrate on the improvement of the method of analysis and on the elimination of genetic heterogeneity of CL±p and CP malformations.

Isolated cleft palate and the chondrocranium

In the chondrocranium of mice with induced cleft palates, the ethmoid region is not affected by this malformation. The paramedian cartilagenous structures of the orbito-temporal region of 17-day-old and new-born mice, however, show a distinct reduction in dorso-ventral height. These deformities prove that the cleft palate malformation is not topographically restricted to the palate. It is assumed that both the cleft palate and accompanying alterations are due to to defective induction in the prechordal area of the embryonic head.