• Maxillofacial Plastic and Reconstructive Surgery
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• v.37
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• pp.22.1-22.4
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• 2015

Velopharyngeal dysfunction in cleft palate patients following the primary palate repair may result in nasal air emission, hypernasality, articulation disorder and poor intelligibility of speech. Among conservative treatment methods, speech aid prosthesis combined with speech therapy is widely used method. However because of its long time of treatment more than a year and low predictability, some clinicians prefer a surgical intervention. Thus, the purpose of this report was to increase an attention on the effectiveness of speech aid prosthesis by introducing a case that was successfully treated. In this clinical report, speech bulb reduction program with intensive speech therapy was applied for a patient with velopharyngeal dysfunction and it was rapidly treated by 5months which was unusually short period for speech aid therapy. Furthermore, advantages of pre-operative speech aid therapy were discussed.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.41
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• pp.19.1-19.6
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• 2019

Background: The submucous cleft palate (SMCP) is a type of cleft palate that may result in velopharyngeal insufficiency (VPI). Palate muscles completely separate oral and nasal cavities by closing off the velopharynx during functional processes such as speech or swallow. Also, hypernasality may arise from anatomical or neurological abnormalities in these functions. Treatments of this issue involve a combination of surgical intervention, speech aid, and speech therapy. This case report demonstrates successfully treated VPI resulted from SMCP without any surgical intervention but solely with speech aid appliance and speech therapy. Case presentation: A 13-year-old female patient with a speech disorder from velopharyngeal insufficiency that was caused by a submucous cleft palate visited to our OMFS clinic. In the intraoral examination, the patient had a short soft palate and bifid uvula. And the muscles in the palate did not contract properly during oral speech. She had no surgical history such as primary palatoplasty or pharyngoplasty except for tonsillectomy. And there were no other medical histories. Objective speech assessment using nasometer was performed. We diagnosed that the patient had a SMCP. The patient has shown a decrease in speech intelligibility, which resulted from hypernasality. We decided to treat the patient with speech aid (palatal lift) along with speech therapy. During the 7-month treatment, hypernasality measured by a nasometer decreased and speech intelligibility became normal. Conclusions: Surgery remains the first treatment option for patients with velopharyngeal insufficiencies from submucous cleft palates. However, there were few reports about objective speech evaluation pre- or post-operation. Moreover, there has been no report of non-surgical treatment in the recent studies. From this perspective, this report of objective improvement of speech intelligibility of VPI patient with SMCP by non-surgical treatment has a significant meaning. Speech aid can be considered as one of treatment options for management of SMCP.

• Journal of the korean academy of Pediatric Dentistry
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• v.27 no.4
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• pp.517-523
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• 2000

Nasopharyngeal closure is a sphincter mechanism between the activities of the soft palate, lateral pharyngeal wall and the posterior pharyngeal wall, which divides the oral cavity and the nasal cavity. It participates in physiological activities such as swallowing, breathing and pronunciation. In case of an error in this mechanism, it is called a nasopharyngeal incompetence. The causes of this error are defects in (1) length, function, posture of the soft palate (2) depth and width of the nasopharynx, (3) activity of the posterior and lateral pharyngeal wall. The purpose of this study is to analyze the nasopharynx of cleft palate patients using lateral cephalograms and at the same time, evaluate the degree of hypernasality of each vowels to find its relationship with nasopharyngeal incompetence. The following results were obtained: 1. The length of the soft palate was markedly short than normal. 2. The adequate ratio was smaller than the normal value. 3. As the adequate ratio decreased, when articulating vowels, anatomic mVPI increased. 4. When articulating each vowels, anatomic VPI was in proportion with the degree of hypernasality. 5. The degree of hypernasality was greater in high vowels(/i/, /u/) than low vowel(/a/). From the above results, it can be concluded that in cleft palate patients, lateral cephalograms can be used effectively in diagnosing and evaluating nasopharyngeal incompetence. The anatomic structure of the nasopharynx has close relation to the degree of hypernasality.

• Journal of Genetic Medicine
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• v.16 no.1
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• pp.15-18
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• 2019

SHORT syndrome is an extremely rare congenital condition due to a chromosomal mutation of the PIK3R1 gene found at 5q13.1. SHORT is a mnemonic representing six manifestations of the syndrome: (S) short stature, (H) hyperextensibility of joints and/or inguinal hernia, (O) ocular depression, (R) Rieger anomaly, and (T) teething delay. Other key aspects of this syndrome not found in the mnemonic include lipodystrophy, triangular face with dimpled chin (progeroid facies, commonly referred to as facial gestalt), hearing loss, vision loss, insulin resistance, and intrauterine growth restriction (IUGR). 3q duplication syndrome is rare syndrome that occurs due to a gain of function mutation found at 3q25.31-33 that presents with a wide array of manifestations including internal organ defects, genitourinary malformations, hand and foot deformities, and mental disability. We present a case of a 2 year and 3 month old male with SHORT syndrome and concurrent 3q duplication syndrome. The patient presented at birth with many of the common manifestations of SHORT syndrome such as bossing of frontal bone of skull, triangular shaped face, lipodystrophy, micrognathia, sunken eyes, and thin, wrinkled skin (progeroid appearance). Additionally, he presented with findings associated with 3q duplication syndrome such as cleft palate and cryptorchidism. Although there is no specific treatment for these conditions, pediatricians should focus on referring patients to various specialists in order to treat each individual manifestation.

• The korean journal of orthodontics
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• v.22 no.3 s.38
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• pp.657-673
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• 1992

Orthodontic treatment of cleft patients is difficult as the growth is different from that of normal ones. So it is very important to know the characteristic features of the craniofacial morphology and growth pattern in unilateral cleft lip and palate patients. The materials for this study consisted of 55 normal males and 50 unilateral cleft lip and palate ones who received cheiloplasty and palatoplasty previously. The cleft subjects were divided into 4 groups according to their ages kto find out the growth pattern of hard and soft tissue, and to compare the features with those of normal ones. Each cephalogram analysed by McNamara method and others. The obtained results were as follows 1. In the unilateral cleft lip and palate subjects, forward growth of the maxilla was smaller than that of normal ones from 9 years old. So the maxilla was retruded. The maxillary incisors were severely retruded in all age groups. 2. The mandibular overall length and its anteroposterior position did not show any significant differences between two groups. But the height of ramus was very short and the mandible had vertical growth tendency to compensate for undergrowth of the maxilla in cleft subjects after 12 years of age. 3. Horizontal growth of the soft tissue in middle face was smaller than that of any other facial region from 9 years old. The vertical growth rate of upper lip was decreased as growing old. 4. In cleft subjects, the upper and lower facial component angle and the facial convexity angle were large. So their facial profile changed to straight or concave as growing old.

• Asian-Australasian Journal of Animal Sciences
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• v.30 no.5
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• pp.736-742
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• 2017

Objective: Experiments were conducted to clone the sequence of Wild Argali short palate, lung and nasal epithelium clone 1 (SPLUNC1) cDNA, and to lay the foundation for further study the biological function of Wild Argali SPLUNC1. Methods: The complete sequence of Wild Argali SPLUNC1 cDNA was generated by rapid amplification of cDNA ends. The entire coding sequence was inserted into the pPIC9K vector and expressed in Pichia pastoris (P. pastoris) GS115. The recombinant SPLUNC1 protein was detected by Western blot and purified by $Ni^{2+}$ chelate affinity chromatography. The test of effect of the protein on Mycoplasma ovipneumoniae (MO) was performed with real-time polymerase chain reaction. Results: The Wild Argali SPLUNC1 cDNA was 1,076 bp with an open reading frame of 768 bp, which encoded a 26.49 kDa protein composed of 255 amino acids. Its amino acid sequence shared 98.4%, 96.9%, 94.5%, 90.2%, 80.8%, 78.4%, 78.3%, 72.5%, 72.3%, 68.8% identity with those of SPLUNC1 cDNA from Ovis aries (accession no. NP_001288334.1), Capra hircus (accession no. XP_005688516.1), Pantholops hodgsonii (accession no. XP_005979709.1), Bos taurus (accession no. NP_776851.1), Felis catus (accession no. XP_006929910.1), Homo sapiens (accession no. NP_001230122.1), Sus scrofa (accession no. NP_001005727.1), Chinchilla lanigera (accession no. NP_001269294.1), Mus musculus (accession no. NP_035256.2), and Rattus norvegicus (accession no. NP_742028.1), respectively. The recombinant protein corresponded to the expected molecular mass of 25.47 kDa as judged by sodium dodecyl sulfate-polyacrylamide gel electrophoresis, and it was detected in the supernatant of P. pastoris, and it could be purified. The results from the test of inhibition effect of argali recombinant SPLUNC1 protein on MO showed that the product could inhibit MO very well (p<0.01). Conclusion: The amino acid sequence of Wild Argali SPLUNC1 was different from other organisms. The recombinant SPLUNC1 protein has good biological activity.

• Archives of Craniofacial Surgery
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• v.21 no.1
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• pp.3-6
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• 2020

Nowadays, the incidence of nasal bone fracture is increasing because of social complexity with frequent social activity, and reduction of fractures is relatively simple and can be corrected in short operation time. However, the postoperative results are known to be less satisfied with higher complication rates relatively. These problems could have resulted from inaccurate recognition and interpretation of fracture aspect, inaccurate planning of operation resulting in under or overcorrection, ignoring septal management, complication related nasal packings with removal, postoperative management, and patient satisfaction with complication.

• Journal of Genetic Medicine
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• v.15 no.2
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• pp.102-106
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• 2018

Aggrecan is a proteoglycan in the extracellular matrix of growth plate and cartilaginous tissues. Aggrecanopathy has been reported as a genetic cause not only for severe skeletal dysplasia but also for autosomal dominant short stature with normal to advanced bone age. We report a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature identified through targeted exome sequencing. We present a girl of 4 years and 9 months with a family history of short stature over three generations. The paternal grandmother is 143 cm tall (-3.8 as a Korean standard deviation score [SDS]), the father 155 cm (-3.4 SDS), and the index case 96.2 cm (-2.9 SDS). Evaluation for short stature showed normal growth hormone (GH) peaks in the GH provocation test and a mild delayed bone age for chronological age. This subject had clinical characteristics including a triangular face, flat nasal bridge, prognathia, blue sclerae, and brittle teeth. The targeted exome sequencing was applied to detect autosomal dominant growth palate disorder. The novel variant c.910G>A (p.Asp304Asn) in ACAN was identified and this variant was found in the subject's father using Sanger sequencing. This is the first case of Korean familial short stature due to ACAN mutation. ACAN should be considered for proportionate idiopathic short stature, especially in cases of familial short stature.

• Korean Journal of Cleft Lip And Palate
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• v.11 no.2
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• pp.77-82
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• 2008

The harmonious lip length, residual scar and Cupid's bow width and peak with a normal side are the aims of a unilateral cleft lip repair. Also, long term amelioration without necessary of revisional surgeries may be the ideal conditions. No one method can satisfy the wide varieties of cleft lip deformities. Recently with rearrangement of paraoral muscle and some modifications, a straight line repair technique has been concerned again. Straight scar line, simplicity, and short learning curve are the advantages of the straight line technique. Here two cases of the simple straight line technique were presented and discussed for its usefulness and reliability with short reviews of previous reports.

• Journal of the korean academy of Pediatric Dentistry
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• v.23 no.3
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• pp.601-608
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• 1996

Robinow syndrome or fetal face syndrome is a rare inherited disorder characterized by short stature, mesomelic brachymelia, hypoplastic genitalia, and a typical facial appearence ("fetal face") with frontal bossing, hypertelorism, ear abnormalities, a short upturned nose, long philtrum, micrognathia, and macrocephaly. Intraoral features have included quite a few dental cavities, crowding, hypoplastic uvula, cleft lip or/and cleft palate, gingival hyperplasia, alveolar hyperplasia, enamel hypoplasia, delayed eruption, and congenital missing of the permanent teeth. We report on a 10 years old girl with Robinow syndrome. The patient had most of the typical anomalies of the syndrome and negative family history but, in addition, had mental retardation, hearing loss, and serous otitis media. Intraoral findings included dental cavities, crowding, hypoplastic uvula, repaired cleft palate, and mouth breathing. Dental treatment and V-tube insertion(by dept. of ENT) were performed under general anesthesia. In all cases of Robinow syndrome, thorough evaluation and united treatments with medical specialists should be performed.