• Archives of Plastic Surgery
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• v.34 no.4
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• pp.528-530
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• 2007

Purpose: Holoprosencephaly(HPE) is a rare developmental defect due to incomplete cleavages of the prosencephalon during the third week of fetal development. Chromosomal anomalies, genetic syndrome, teratogen, or genetic disorder of non-syndromic HPE are usually accepted as etiology. The consequences of prechordal mesoderm defect are varying degrees of deficit of midline facial development, especially the median nasal process(premaxilla), and incomplete morphogenesis of the forebrain. We experienced a case of lobar HPE with complete cleft lip and palate. Methods: A female newborn infant was born at $38^{+6}$ weeks' gestational age via NSVD. The infant's birth weight was 3.6 kg, height 52 cm, and head circumference 32.5 cm, showing microcephaly, flat nose, median complete cleft lip & palate, and hypotelorism, along with defects of midfacial development including losses of premaxilla, philtrum, nasal septum, and columella. Results: There were no specific findings noted from the head and neck X-ray and tests for endocrine and metabolic disorders, but clinical characteristics of midface and dysgenesis corpus callosum on brain MRI were seen, so that this case was diagnosed with HPE. Conclusion: HPE is divided into three categories of alobar, semilobar, and lobar prosencephaly according to the degree of cerebral hemisphere separation. Assesment of patient's brain abnormality and malformation is essential in determining the extent and benefit of surgical intervention. This case was included in the lobar type HPE which shows relatively good prognosis compared with other types and reconstruction of median complete cleft lip & palate and midfacial defects will be performed.

• Archives of Craniofacial Surgery
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• v.12 no.2
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• pp.102-106
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• 2011

Purpose: It is accepted universally that correction of the cleft lip nasal deformity requires multiple stages of surgery. Following primary lip repair in infancy or early childhood, secondary surgery to improve the deformity of the lip and nose is frequently necessary. A suitable surgical procedure to correct the accompanying deformity, such as cleft palate and alveolus, must be carried out at an appropriate age. In developing countries, it is common for patients with cleft lip nasal deformity to present severe secondary deformities in adolescence, because of poor follow-up and inappropriate surgery. Methods: The first patient was a 12 year old Mongolian boy. He presented prominent lip scar, short lip, wide columella, asymmetric nostril, palatal fistula, cleft alveolus, and velopharyngeal incompetence. He underwent cheilorhinoplasty, transpositional flap, alveoloplasty by iliac bone graft, and sphincter pharyngoplasty. On follow-up, a bilateral maxillary hypoplasia and a class III malocclusion developed. He underwent LeFort I osteotomy and maxillary advancement at the age of 16 years. The second patient was an 18 year old Eastern Russian girl. She presented with a deviated nose, right alar base depression, short lip, protrusion on vermilion, large palatal fistula, and severe VPI due to short palate. She underwent the combined procedure of cheilorhinoplasty, corrective rhinoplasty, tongue flap for palatal fistula, and superiorly based pharyngeal flap. And the tongue flap was detached at postoperative 3 weeks. Results: The overall results have been extremely pleasing and satisfactory to patients. There were no postoperative complications. Conclusion: We discovered the one stage operation for radical correction was sufficient procedure to provide excellent clinical outcomes in patients with severe cleft lip nose deformity.

• The korean journal of orthodontics
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• v.49 no.1
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• pp.59-69
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• 2019

In this report, we describe a case involving a 34-year-old woman who showed good treatment outcomes with long-term stability after multidisciplinary treatment for unilateral cleft lip and palate (CLP), maxillary hypoplasia, severe maxillary arch constriction, severe occlusal collapse, and gingival recession. A comprehensive treatment approach was developed with maximum consideration of strong scar constriction and gingival recession; it included minimum maxillary arch expansion, maxillary advancement by distraction osteogenesis using an internal distraction device, and mandibular setback using sagittal split ramus osteotomy. Her post-treatment records demonstrated a balanced facial profile and occlusion with improved facial symmetry. The patient's profile was dramatically improved, with reduced upper lip retrusion and lower lip protrusion as a result of the maxillary advancement and mandibular setback, respectively. Although gingival recession showed a slight increase, tooth mobility was within the normal physiological range. No tooth hyperesthesia was observed after treatment. There was negligible osseous relapse, and the occlusion remained stable after 5 years of post-treatment retention. Our findings suggest that such multidisciplinary approaches for the treatment of CLP with gingival recession and occlusal collapse help in improving occlusion and facial esthetics without the need for prostheses such as dental implants or bridges; in addition, the results show long-term post-treatment stability.

• Archives of Plastic Surgery
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• v.51 no.1
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• pp.80-86
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• 2024

Background Among the cleft types, bilateral cleft lip and palate (BCLP) generally requires multiple surgical procedures and extended speech therapy to achieve normal speech development. This study aimed to describe speech outcomes in 5-year-old Korean children with BCLP and examine whether normal speech could be achieved before starting school. Methods The retrospective study analyzed 52 children with complete BCLP who underwent primary palatal surgery at a tertiary medical center. Three speech-language pathologists made perceptual judgments on recordings from a speech follow-up assessment of 5-year-old children. They assessed the children's speech in terms of articulation, speech intelligibility, resonance, and voice using the Cleft Audit Protocol for Speech-Augmented-Korean Modification. Results The results indicated that at the age of five, 65 to 70% of children with BCLP presented articulation and resonance within normal or acceptable ranges. Further, seven children with BCLP (13.5%) needed both additional speech therapy and palatal surgery for persistent velopharyngeal insufficiency and speech problems even at the age of five. Conclusion This study confirmed that routine follow-up speech assessments are essential as a substantial number of children with BCLP require secondary surgical procedures and extended speech therapy to achieve normal speech development.

• Archives of Plastic Surgery
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• v.51 no.3
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• pp.275-283
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• 2024

Background Shortage of speech and language therapists results in lack of speech services. The aims of this study were to find the effectiveness of a combination speech therapy model at Level IV: General speech and language pathologist (GSLP) and Level V: Specific speech and language pathologist (SSLP) in reduction of the number of articulation errors and promotion the quality of life (QoL) for children with cleft palate with or without cleft lip (CP ± L). Methods Fifteen children with CP ± L, aged 4 years 1 month to 10 years 9 months (median = 76 months; minimum:maximum = 49:129 months) were enrolled in this study. Pre- and post-assessment included oral peripheral examination; articulation tests via Articulation Screening Test, Thai Universal Parameters of Speech Outcomes for People with Cleft Palate, Hearing Evaluation, The World Health Organization Quality of Life Brief_Thai (WHOQOL-BRIEF-THAI) version questionnaire for QoL were performed. Speech therapy included a 3-day intensive speech camp by SSLP, five 30-minute speech therapy sessions by a GSLP, and five 1-day follow-up speech camps by SSLP that provided four 45-minute speech therapy sessions for each child. Results Post-articulation revealed statistically significant reduction of the numbers of articulation errors at word, sentence, and screening levels (median difference [MD] = 3, 95% confidence interval [CI] = 2-5; MD = 6, 95% CI = 4.5-8; MD = 2.25, 95% CI = 1.5-3, respectively) and improvement of QoL. Conclusion A speech task force consisting of a combination of Level IV: GSLP and Level V: SSLP could significantly reduce the number of articulation errors and promote QoL.

• Imaging Science in Dentistry
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• v.42 no.4
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• pp.225-229
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• 2012

Purpose: This study aimed to evaluate the trabecular bone changes after alveolar bone grafting in unilateral cleft lip and palate (UCLP) patients using a computer-aided diagnosis (CAD) system. Materials and Methods: The occlusal radiographs taken from 50 UCLP patients were surveyed retrospectively. The images were categorized as: 50 images in group 0 (before bone grafting), 33 images in group 1 (one month after bone grafting), 24 images in group 2 (2-4 months after bone grafting), 15 images in group 3 (5-7 months after bone grafting), and 21 images in group 4 (8 or more months after bone grafting). Each image was grouped as either "non-cleft side" or "cleft side". The CAD system was used five times for each side to calculate the pixel area based on the mathematical morphology. Significant differences were found using a Wilcoxon signed ranks test or paired samples t test. Results: The pixel area showed a significant difference between the "non-cleft side" and "cleft side" in group 0 ($404.27{\pm}103.72/117.73{\pm}92.25$; p=0.00), group 1 ($434.29{\pm}86.70/388.31{\pm}109.51$; p=0.01), and group 4 ($430.98{\pm}98.11/366.71{\pm}154.59$; p=0.02). No significant differences were found in group 2 ($423.57{\pm}98.12/383.47{\pm}135.88$; p=0.06) or group 3 ($433.02{\pm}116.07/384.16{\pm}146.55$; p=0.19). Conclusion: Based on the design of this study, alveolar bone grafting was similar to normal bone within 2-7 months postoperatively.

• Anatomy and Cell Biology
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• v.57 no.2
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• pp.278-287
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• 2024

Striated muscle insertions into the skin and mucosa are present in the head, neck, and pelvic floor. We reexamined the histology of these tissues to elucidate their role in transmission of the force. We examined histological sections of 25 human fetuses (gestational ages of ~11-19 weeks and ~26-40 weeks) and 6 cadavers of elderly individuals. Facial muscle insertion or terminal almost always formed as an interdigitation with another muscle or as a circular arrangement in which muscle fiber insertions were sandwiched and mechanically supported by other muscle fibers (like an in-series muscle). Our examination of the face revealed some limited exceptions in which muscle fibers that approached the dermis were always in the nasalis and mentalis muscles, and often in the levator labii superioris alaeque nasi muscle. The buccinator muscle was consistently inserted into the basement membrane of the oral mucosa. Parts of the uvulae muscle in the soft palate and of the intrinsic vertical muscle of the tongue were likely to direct toward the mucosa. In contrast, the pelvic floor did not contain striated muscle fibers that were directed toward the skin or mucosa. Although 'cutaneous muscle' is a common term, the actual insertion of a muscle into the skin or mucosa seemed to be very rare. Instead, superficial muscle insertion often consisted of interdigitated muscle bundles that had different functional vectors. In this case, the terminal of one muscle bundle was sandwiched and fixed mechanically by other bundles.

• Journal of Genetic Medicine
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• v.8 no.1
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• pp.71-75
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• 2011

A male infant was diagnosed with obstetric brachial plexus injury, congenital muscular torticollis and cleft palate 17 days after birth. His mother presented with gestational diabetes and premature rupture of membranes. Although it is possible that these three disorders arose independently, it is very likely that all three have the same etiologic cause, and we propose that a possible mechanism for this concurrence is related to maternal gestational diabetes. Maternal hyperglycemia mostly affects fetal structures deriving from the neural crest, including the palatine bone, and may have caused the cleft palate observed in this case. Gestational diabetes is also associated with increased frequency of large for gestational age infants and, by extension, with increased risk of birth injuries such as obstetric brachial plexus injury or congenital muscular torticollis associated with large for gestational age infants. Since the children of mothers with gestational diabetes are at increased risk for congenital defects such as cleft palate as well as being large for gestational age, precautions indicated for each respective disorder must be taken during prenatal testing and during birth. However, further studies of more cases are required to evaluate whether the concurrence of obstetric brachial plexus injury, congenital muscular torticollis and cleft palate in this case are complications specifically associated with gestational diabetes or just a simple coincidence.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.19
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• pp.8197-8201
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• 2014

Background: Telomerase reverse transcriptase (TERT) and cleft lip and palate trans-membrane 1 like (CLPTM1L) genes located on chromosome 5p15.33 are known to influence the susceptibility to various cancers. Here, we examined the association of TERT and CLPTM1L single nucleotide polymorphisms (SNPs) with hepatocellular carcinoma (HCC). Materials and Methods: Genotyping of TERT SNP rs2736098 and CLPTM1L SNP rs401681 was performed using TaqMan allelic discrimination assays in a case-control study of 201 HCC cases and 210 controls in a Chinese male population. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using logistic regression analyses. Results: Both the rs2736098 T allele of TERT and the rs401681 T allele of CLPTM1L were associated with a significantly increased risk of HCC (adjusted odds ratio [OR]=1.605, 95% confidence interval [CI]=1.164-2.213; adjusted OR=1.399, 95%CI=1.002-1.955, respectively). Individuals carrying both TERT and CLPTM1L risk genotypes had an even higher risk of HCC (adjusted OR=4.420, 95%CI= 2.319-8.425). The TERT rs2736098 T allele was also significantly associated with the level of the HCC clinical indicator alpha-fetoprotein (P=0.026). Conclusions: Our results show that genetic variants of TERT and CLPTM1L may contribute to HCC susceptibility in Chinese males.

• Archives of Plastic Surgery
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• v.33 no.4
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• pp.399-406
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• 2006

Purpose: The authors accessed the anthropometric measurements of fourty non-cleft normal a three-month-old infant and using this obtained data as a basic guideline, authors applied the modified Noordhoff technique for the treatment of bilateral cleft lip. Methods: Over a period of 10 years, a total of 21 bilateral cleft lips were operated. 13 cases of complete and 8 cases of incomplete bilateral cleft lip and palate. In the complete type of bilateral cleft palate, elastic head cap and passive intraoral appliance were applied at 1 to 2 week of age for 2 months duration. The definitive cheiloplasty was performed at 3 months of age using the modified Noordhoff technique. Results: After a follow-up period ranging one to nine years, most patients presented with cosmetically and functionally satisfying results, with an exception of two cases where an undesired peaking effect of the vermilion and dimpling of the vermilion mucosa was encountered. Conclusion: Accessing the anthropometric measurements of fourty non-cleft normal three-month-old infant and using this obtained dara as a guideline, the modified Noordhoff technique can be applied to either complete or incomplete bilaterally cleft lip providing more naturally pleasing and cosmetically satisfying scars that lie in harmony with the philtral ridges, lip tubercle positioned just below the vermilion and a distinct white line and Cupid's bow.