• Journal of Oral Medicine and Pain
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• 제40권3호
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• pp.110-114
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• 2015

Purpose: Growth and differentiation factor (GDF)-11 is a transforming growth factor-${\beta}$ family member that plays important regulatory roles in development of multiple tissues which include axial skeletal patterning, palatal closure, and tooth formation. Proteins that have been identified as GDF-11 inhibitors include GDF-associated serum protein (GASP)-1 and GASP-2. Recently, we found that mice genetically engineered to lack both Gasp1 and Gdf11 have an increased frequency of cleft palate. The goal of this study was to investigate the roles of GDF-11 and its inhibitors, GASP-1 and GASP-2, during dental and craniofacial development and growth. Methods: Mouse genetic studies were used in this study. Homozygous knockout mice for Gasp1 ($Gasp1^{-/-}$) and Gasp2 ($Gasp2^{-/-}$) were viable and fertile, but Gdf11 homozygous knockout ($Gdf11^{-/-}$) mice died within 24 hours after birth. The effect of either Gasp1 or Gasp2 deletion in $Gdf11^{-/-}$ mice during embryogenesis was evaluated in $Gasp1^{-/-}$;$Gdf11^{-/-}$ and $Gasp2^{-/-}$;$Gdf11^{-/-}$ mouse embryos at 18.5 days post-coitum (E18.5). For the analysis of adult tissues, we used $Gasp1^{-/-}$;$Gdf11^{+/-}$ and $Gasp2^{-/-}$;$Gdf11^{+/-}$ mice to evaluate the potential haploinsufficiency of Gdf11 in $Gasp1^{-/-}$ and $Gasp2^{-/-}$ mice. Results: Although Gasp2 expression decreased after E10.5, Gasp1 expression was readily detected in various ectodermal tissues at E17.5, including hair follicles, epithelium in nasal cavity, retina, and developing tooth buds. Interestingly, $Gasp1^{-/-}$;$Gdf11^{-/-}$ mice had abnormal formation of lower incisors: tooth buds for lower incisors were under-developed or missing. Although $Gdf11^{+/-}$ mice were viable and had mild transformations of the axial skeleton, no specific defects in the craniofacial development have been observed in $Gdf11^{+/-}$ mice. However, loss of Gasp1 in $Gdf11^{+/-}$ mice occasionally resulted in small and abnormally shaped auricles. Conclusions: These findings suggest that both GASP-1 and GDF-11 play important roles in dental and craniofacial development both during embryogenesis and in adult tissues.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제43권4호
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• pp.267-271
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• 2017

Although it is a rare developmental malformation, van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for approximately 2% of all cleft cases. The lower lip pits with or without a cleft lip or palate is characteristic of the syndrome. Findings, such as hypodontia, limb deformities, popliteal webs, ankylogossia, ankyloblepheron, and genitourinary and cardiovascular abnormalities, are rarely associated with the syndrome. This paper reports a rare case of van der Woude syndrome in a 10-year-old male patient with a single median lower lip pit and a repaired bilateral cleft lip and cleft palate that were associated with microstomia, hypodontia, and clubbing of the left foot with syndactyly of the second to fifth lesser toes of the same foot.

• Journal of Korean Neurosurgical Society
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• 제38권3호
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• pp.242-244
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• 2005

Encephaloceles are known as rare craniofacial developmental anomalies which are herniation of cranial contents through a skull defect. Sphenoidal meningoencephalocele represents an important cause of reversible visual loss. We report a rare case of pituitary adenoma accompanying sphenoidal meningoencephalocele with clival extension. Although the definitive diagnosis of cystic lesions in the sellar region before surgery is difficult, accurate diagnosis of these lesions is important to determine the type of treatment and predict prognostic outcome.

• 대한두개안면성형외과학회지
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• 제21권6호
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• pp.372-375
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• 2020

Congenital midline cervical cleft is a rare congenital disease. The disease is often misdiagnosed as a branchial cleft deformity, thyroglossal duct cyst, or other skin diseases. It has the following characteristics: skin defect at the midline of the anterior neck, a skin tag at the upper end of the lesion, and a blind sinus tract at the caudal aspect with or without mucoid discharge. Treatment is usually for aesthetic purposes; therefore, early surgical en bloc resection with Z-plasty or W-plasty is recommended to reduce recurrence and scar formation.

• 대한두개안면성형외과학회지
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• 제23권1호
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• pp.6-16
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• 2022

Neurofibromatosis type 1 is the most common tumor predisposition syndrome inherited in an autosomal dominant (100% penetrance) fashion with a wide variety of expressivity. From the perspective of plastic surgery, the most significant clinical symptoms, including disfiguration, peripheral neurologic symptoms, and skeletal abnormalities, are caused by various tumors originating from the affected nerves. Surgical removal is the standard of care for these tumors. However, the outcome is frequently unsatisfactory, facilitating the search for additional therapeutic adjuvants. Current trials of molecularly targeted therapies are promising.

• 대한두개안면성형외과학회지
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• 제23권5호
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• pp.241-245
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• 2022

Cervical chondrocutaneous branchial remnants are very rare congenital lesions of the lateral neck; thus, our knowledge of this condition derives almost entirely from occasional case reports in the literature. They are thought to originate from the branchial arches and, therefore, can be found anywhere on the pathway along which those branchial arches migrate during embryogenesis. We report the case of a 5-year-old girl presenting with a cervical chondrocutaneous branchial remnant on the right lateral neck that had existed since birth, with no other anomalies.

• 대한두개안면성형외과학회지
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• 제23권4호
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• pp.187-189
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• 2022

Patients with pixie ear have an attached, tapering, and low-set earlobe. Traditional methods usually describe excision of the caudal portion of the lobule and reattachment in a more superior position. The present report suggests a simplified skin redraping method for correction of pixie ear. The procedure provides easy method to design and perform, which only requires elevation and trimming of the skin. Other ancillary procedures, such as flap design, anchoring, plication, and subdermal fixation, are not required. This method produces satisfactory results. Postoperative scar is invisible because the incision is on the retroauricular region, and the corrected earlobe has a more natural appearance than the repositioned earlobe. Moreover, skin redraping avoids tension, which contributes to minimization of the postoperative scar.

• 대한두개안면성형외과학회지
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• 제17권4호
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• pp.218-221
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• 2016

Temporal hollowing is a common complication that occurs after coronal approach surgeries. However, temporal hollowing without previous nerve damage or trauma history is rare. Herein, we present a patient with cryptogenic temporal hollowing. A 22-year-old man without any history of craniofacial interventions or trauma presented with temporal hallowing. Magnetic resonance imaging revealed fatty degeneration of the left temporalis muscle. Electromyography and nerve conduction study showed no signs of neurologic abnormalities. The patient received autologous fat injection of 30 mL harvested from the left thigh using the modified Coleman technique. Temporal hollowing is commonly caused by atrophy of the superficial temporal fat pad. Its incidence is reported to be as high as 6% after coronal approach operation. Augmentation using porous hydroxyapatite or titanium mesh is a treatment option. Autologous fat graft can also be an option for mild to moderate temporal hollowing. In this case, a patient with no history of trauma, surgery, or myogenic disease developed temporal hollowing. Further study of the little-known cryptogenic form of temporal hollowing is warranted.

• 치과방사선
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• 제25권2호
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• pp.459-470
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• 1995

The purpose of this study was to determine whether any difference existed in craniofacial morphology between cleft children and normal subjects. Thirty three measurements of the various regions of cranium and face were obtained from lateral cephalometric radiograms in 40 cleft children(27 males, 13 females) and 40 normal subjects(23 males, 17 females) in our dental hospital from Jan. 1988 to Dec. 1995.The measurements were compared with those in control subjects who had no history of craniofacial abnormalities. The obtained results were as follows: 1. In the cranium, the cleft children had singificantly shorter posterior cranial base length(S-Ba) and total antero-posterior cranial base length(N-Ba) (P<0.05). 2. In the upper face, the cleft children had significantly shorter upper anterior facial height(N-ANS) and upper posterior facial height(Ptm'-SNL) (P<0.05). 3. In the lower face, the cleft children had significantly shorter antero-posterior mandibular length(Pog-Ar) and antero-posterior mandibular body length(Pog-Go) (P<0.05). 4. In the facial profile, the cleft children had significantly shorter total facial height(N-Me} and posterior facial height(S-Go) (P<0.05).

• Maxillofacial Plastic and Reconstructive Surgery
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• 제18권1호
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• pp.61-68
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• 1996

1. 첫 번째 증례에서 관상 절개를 이용한 부분골 절제술과 Le Fort씨 1급 골절단술을 시행한 결과, 골절단술을 시행한 부위에 원활한 골 치유가 일어났다. 2. 두 번째 증례에서 관상 절개를 이용하여 두개안면부에 광범위한 부분골 절제술을 시행하여 만족할만한 결과를 얻었으며, 병소 부위 말초 혈관 과다는 병소의 성장에 따른 생리적 변화로 추정된다.