이차구개는 발생과정에서 구개선반의 형성과 성장, 거상과 융합의 과정을 통해 형성된다. 이와 같은 이차구개의 형성과정은 미세한 분자유전학적 신호전달기전에 의해 조절되는 것으로 알려져 있어서, 신호전달과정에 관여하는 유전인자의 발현이상이 되면 정상적인 이차구개가 형성되지 못하고 구개파열이라는 선천성 기형이 발생된다. 구개파열의 유발인자들에 대한 많은 연구에도 불구하고 현재까지 정상적인 이차구개의 형성을 조절하는 분자유전학적 기전에 대해서는 명확히 알려져 있지 않다. 따라서 본 연구에서는 이차구개의 형태분화를 조절하는 분자유전학적 기전을 알아보고자, 이차구개 형성의 내적 조절인자 중 핵심유전자로 알려져 있는 Osr2가 결손된 생쥐의 이차구개 형성과정에서 정상생쥐에 비해 발현의 변동이 나타나는 유전자를 확인하였다. 유전자 발현의 변동은 발생 14.5일(E14.5)의 구개선반으로부터 추출한 total RNA를 이용하여 ACP-based GeneFishing PCR을 시행하여 확인하였고, 각각의 변동된 유전자를 동정하여 정상생쥐의 이차구개 형성과정에서의 발현양상을 in situ hybridization을 시행하여 확인하였다. 총 120쌍의 primer를 이용한 검색을 통해서 정상생쥐의 구개선반에 비해 mutant에서 발현이 변동된 유전자는 7개가 검출되었고, 이들은 모두 정상생쥐에 비해 mutant에서 발현이 증가되는 것으로 확인되었다. 검출된 유전자는 vimentin(Vim), ${\beta}$-tropomyosin 2(Tpm2), thioredoxin-like 5(Txnl5), procollagen type II alpha 1(Col2a1), Insulin-like growth factor binding protein 7(IGFbp7), Sui 1 homologs(Sui 1), Defender against cell death1(Dad1)이었다. 검출된 유전자를 동정하여 정상생쥐의 구개 형성과정에서의 발현양상을 알아본 결과, Col2a1 을 제외한 유전자들은 모두 E13.5의 구개선반에서 특이적으로 발현되고 있었으나 구개선반이 융합된 E15.5에서는 Vim, Txnl5 그리고 Dad1 만이 봉합선을 따라 발현이 지속되고 있었다. 이상의 결과로 보아 검출된 유전자들은 구개선반의 형태분화과정에서 발현되어 이차구개의 형성과정에 관여할 것으로 여겨진다. 또한 이들은 이차구개 형성의 내적조절인자인 Osr2의 downstream target 으로 구개선반의 성장과 융합과정에 직접적으로 관여하는 유전물질일 것으로 추정된다.

The vertebrate upper lip forms from initially freely projecting maxillary, medial nasal, and lateral nasal prominences at the rostral and lateral boundaries of the primitive oral cavity. These facial prominences arise during early embryogenesis from ventrally migrating neural crest cells in combination with the head ectoderm and mesoderm and undergo directed growth and expansion around the nasal pits to actively fuse with each other. Initial fusion is between lateral and medial nasal processes and is followed by fusion between maxillary and medial nasal processes. Fusion between these prominences involves active epithelial filopodial and adhering interactions as well as programmed cell death. Slight defects in growth and patterning of the facial mesenchyme or epithelial fusion result in cleft lip with or without cleft palate, the most common and disfiguring craniofacial birth defect. This review will summarize the current understanding of the basic morphogenetic processes and molecular mechanisms underlying upper lip development.

The classic triad of diagnostic signs of submucosal cleft palate which may be present are: 1) bifid uvula 2) short palate with no muscle in the midline and 3) hard palate with a submucous notching defect in the posterior midline. The treatment of submucous cleft palate are V-Y push back palatorrhaphy, and superior based pharyngoplasty implant in the posterior pharynx. The best speech results were in those children operated upon in the younger age group (especially at or before 2 years of age), thus pointing up the importance of early diagnosis.

Team approach for the management of cleft lip & palate patients is very important. Plastic surgeon, oral-maxillofacial surgeon, orthodontist, otolaryngologist, and speech therapist should be included in the team. Main role of the ENT surgeon may be variable and is up to the team characteristics. Main topics of ENT surgeons' interesting fields are evaluation and management of hearing impairment due to SOM, voice disorder, and velopharyngeal incompetency due to submucous cleft palate & still remained VPI after curative palatoplasty. Basic review of anatomy & physiology related with otolaryngologic aspect of velopharyngeal system was done. Diseases related with hyponasality as well as hypernasality were discussed. Diagnostic and therapeutic methods were discussed. Proper management of hearing impairment and speech disorders are important.

The bilateral cleft lip, a more severe form of clefting than unilateral cleft lip, involves separation of the lip along philtral lines, isolating the central segment (prolabium). Bilateral cleft lip may be either symmetrical or asymmetrical, in which case the cleft lip is split more on one side than on the other. The cleft affects the obvious facial form as an anatomic deformity and has functional consequences, affecting the child's ability to eat, speak, hear, and breathe. Although there would seem to be quite a variance in reported figures, ratios of cleft lip with or without cleft palate have gone as high as 1:500 and as low as 1:1000. It is known that less than 10% of cleft lips are bilateral. Although bilateral cleft lip is less common than unilateral cleft lip, the deformity is more severe, and the reconstructive technique is more complex. Surgery is the only treatment necessary for patients with bilateral cleft lip. Accompanying the evolution of surgical repair is the increasingly important role of orthodontic support with early presurgical alveolar and nasal molding. Repositioning the maxillary and alveolar segments into a more anatomic position allows the surgeon to repair the lip and associated nasal deformity under more optimal conditions. The purpose of this article is to review the related anatomy, presurgical management, and surgical management of bilateral cleft lip.

It is well known that the main factor which contributes to the relapse of orthognathic surgery for Cleft Lip and Palate (CLP) patients is post-operative scar on hard and soft palate of maxilla. Therefore, to compensate the amount of relapse, though it cannot be the perfect way to prevent orthodontic, orthopedic relapse, the Le-fort I osteotomy of maxilla and set-back osteotomy of mandible are generally carried-out simultaneously. We are to review the factors contribute to the relapse of CLP patients after orthognathic surgery through this clinical case : The relapse of Skeletal Class III tendency immediately after orthognathic surgery for grown up CLP patients.