• Journal of Genetic Medicine
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• 제17권2호
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• pp.108-111
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• 2020

Short stature homeobox-containing gene (SHOX) is a well-known causative gene for the short stature in Turner syndrome. The clinical manifestation of SHOX gene related disorders varies from SHOX haploinsufficiency, presenting with idiopathic short stature, disproportionate short stature, or Leri-Weill dyschondrosteosis (LWD) to recessive form of extreme dwarfism and limb deformity in Langer mesomelic dysplasia. LWD is usually diagnosed upon suspicion based on short stature and skeletal abnormalities, and it is rarely accompanied with respiratory failure in the neonatal period. Here, we report the case of a newborn infant with LWD presenting with severe micrognathia that caused respiratory distress, which was diagnosed using microarray testing. Even when the manifestation of Madelung deformity is not yet apparent, LWD should be considered as one of underlying diseases related to congenital micrognathia.

• 대한치과의사협회지
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• 제10권6호
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• pp.379-383
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• 1972

Patient, S.B. moon, an 20-years old female was first seen S.N.U. Dental Hospital in January 1971 because of masticatory dysfunction, cosmetic unfiguration due to mandibular micrognathia. Her Complaint was 'bird face' due to under development of the jaw. A bilateral Z-shape sliding osteotomy was performed with the patient under the general Anesthesia.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제13권3호
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• pp.319-323
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• 1991

This is a case report and review of literature that deal with a surgical correction of mandibular deficiency. Patient, 38 years old male, had visited to treat mandibular deficiency. On the basis of clinical and radiographic examination, he was diagnosed as a micrognathia. Surgical method. 1. Intraoral Bilateral sagittal split osteotomy 2. Augmentation of genioplasty - double step. Patient was satisfied with final esthetics by gnathosurgery.

• Archives of Plastic Surgery
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• 제35권3호
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• pp.349-353
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• 2008

Purpose: There are 3 well-known surgical procedures to treat Pierre Robin sequence: tongue-lip adhesion, distraction osteogenesis of mandible, and tracheostomy. The classical tongue-lip adhesion is an effective way to keep airway. The tongue, however, becomes quite non-mobile and appears dormant until the patient could control upper airway and the adhesion can be maintained for prolonged period. Most of all, this procedure does not provide the correction of the micrognathia. Distraction osteogenesis is a good technique to correct micrognathia and to prevent tracheostomies in patients with Pierre Robin sequence. But airway keeping procedure is needed during the distraction period. The purpose of this study is to determine the usefulness of temporary tongue-lip traction during the initial period of mandibular distraction in Pierre Robin sequence patients with severe airway problems requiring operative procedure. Methods: It was a prospective study of 2 Pierre Robin sequence patients aged between 4 months and 6 months requiring surgical procedure to correct recurrent and severe pulmonary complications. Two patients underwent distraction osteogenesis of mandible. During the operation, deep one tension suture was performed to tract the tongue and lip. When the patient gained control of upper airway at the initial period of distraction and micrognathia was corrected, the traction suture was removed. Results: All patients were followed up. No patients complained severe pulmonary complications and tracheostomy could be avoided. No patients had severe pulmonary complication. The pulmonary condition of patients was good. Conclusion: In severe Pierre Robin sequence case, temporary tongue-lip traction is a good assistant method in distraction osteogenesis because this method can avoid tracheostomy.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제30권3호
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• pp.237-245
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• 2004

왜소악, 설하수, 구개열의 세 가지 특징적 증상과 더불어 간헐적인 청색증, 흉곽의 함몰, 기도 폐색에 의한 호흡 곤란과 수유곤란 등의 임상소견을 나타낸 3례의 Pierre Robin sequence 환아에서, 혀의 위치를 교정하기 위한 구강저골막하박리술과 혀를 전방으로 위치시켜 호흡 곤란과 기도 폐색을 예방하기 위한 설구순접합술과 동시에 시행하고 약 1년 경과 후 설구순분리술을 시행한 결과 호흡 곤란과 수유장애의 해소, 혀의 전방 재위치, 체중 증가 및 하악골의 성장 증진 등 만족할 만한 결과를 얻었다. 구강저골막하박리술과 구순접합술 동시 시술은 Pierre Robin sequence 환아에서 기도 폐색의 외과적 치료를 위한 간단하고도 신뢰할만한 방법이라고 사료된다.

• 대한기관식도과학회:학술대회논문집
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• 대한기관식도과학회 1983년도 제17차 학술대회연제순서 및 초록
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• pp.18.1-18
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• 1983

1923년 Pierre-Robin이 소하악증, 설하수증 및 고궁구개(high-arched palate)혹은 구개 파열의 3주징을 처음으로 기술하였다. 기도장애가 자주 발생하고, 신속하며 적절한 치료를 필요로 한다. 이 증후군은 출생아 5만명 중 1명 정도로 드물게 발생한다. 이 증후군의 원인은 불명확하지만 하악골발달의 일차적 부전 때문으로 알려져 있다. 소하악증으로 인해 혀의 기저부가 후방으로 이동하여 인두후벽에 접근하여 기도폐쇄의 증상이 발생하며 이는 영아가 앙와위를 취할 때 악화된다. 환자를 복와위로 유지시킴으로서 경한 기도폐쇄의 문제들은 해결되지만, 섭식장애가 있을 경우에는 기도폐쇄가 악화되므로 빨리 설고정술을 실시하는 것이 좋으나 기관절개술은 최대한 피하는 것이 좋다. 설고정술에는 Douglas 수술법, Kirschner wire 삽입법 및 Duhamel 봉합법 등이 있다고 알려져 있다. 저자들은 최근 호흡곤란 및 섭식장애를 주소로 내원한 출생 2개월 된 남아에서 소하악증, 설하수증 및 고궁구개 (high-arched palate)를 확인하였으며 Duhamel 봉합법으로 기도폐쇄의 증상이 호전되지 않아 기관절개술을 시행한 후 관찰 중인 이 환자를 Pierre-Robin Syndrome으로 생각하기에 보고하는 바이다.

• Toxicological Research
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• 제19권3호
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• pp.181-187
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• 2003

Effects of repeated treatment with butylated hydroxyanisole (BHA) on the induction of glutathione S-transferases (GSTs) and teratogenicity of cyclophosphamide were investigated in rats. Pregnant rats were orally treated with BHA (50 mg/kg) for 7 days, from days 6 to 12 of gestation, and intraperitoneally challenged with cyclophosphamide (15 mg/kg) 2 hr after the final treatment. On day 20 of gestation, the maternal and fetal abnormalities were examined. Separately, a part of rats was sacrificed for the assay of hepatic and placental GSTs activities on day 12 of gestation following 7-day treatment with BHA. Cyclophosphamide, administered on day 12 of gestation, induced 43.2% of fetal death and resorption, and 100% of malformations in live fetuses, in contrast to low fetal resorption (8.7%) and malformations (8%) in control group. The malformations include cranial defect and exencephaly (100%), micrognathia and tongue extrusion (100%), limb defects (40%), renal pelvic dilatation (39%), and cleft palate (15%). Interestingly, BHA induced GSTs activities by 62% and 46% over the control in liver and placenta, respectively, and remarkably reduced the fetal resorption (13.9%) and malformations, resulting in 62% of cranial defect and exencephaly, 68% of micrognathia and tongue extrusion, 29% of limb defects, and 14% of renal pelvic dilatation. Taken together, it is suggested that a long-term pretreatment with BHA could substantially prevent fetuses from abortion and malformations following intrauterine exposure to teratogens including cyclophosphamide by inducing phase II antioxidant enzymes such as GSTs.

• Journal of Chest Surgery
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• 제26권11호
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• pp.886-889
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• 1993

The DiGeorge syndrome is a rare congenital anomaly of absent or hypoplastic thymus and parathyroid glands. Authors experienced a case of DiGeorge syndrome with complex cardiac anomaly. The complex cardiac anomaly was tetralogy of Fallot with origin of the right pulmonaly artery from the posterolateral ascending aorta.His face showed hypertelorism,short philtrum,"fish-like"mouth and micrognathia. This patient underwent total correction of tetralogy of Fallot and end-to-side anastomosis between right pulmonaly artery and side of main pulmonaly artery. He expired on postoperative second day due to right heart failure and hypoxia.d hypoxia.

• 대한장애인치과학회지
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• 제5권2호
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• pp.92-95
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• 2009

1. 이 증례는 Pierre Robin Sequence로 진단받은 14개월 남아로 PRS의 3요소 중 하악왜소증, 설하수증의 소견을 보이고 있었으며 기도확보는 측와위를 통하여, 섭식은 PEG 도관삽입술을 시행하여 유지하고 있었다. 2. PRS는 해부학적 폐쇄 질환이기도 하지만 성장 장애이기도 하므로 여러 분야의 다원적 접근 및 치료계획이 필요하며, 다른 증후군들과 연관되어 심장질환, 신경질환, 안과질환, 청력문제 등이 동반될 수 있으므로 치과 진료실 에서 PRS 환아의 진료시 이 점을 유의해야할 것이다.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제33권3호
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• pp.270-275
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• 2011

Pierre Robin Sequence (PRS) is known as an anomaly consisting of respiratory obstruction with glossoptosis, micrognathia and cleft palate in a newborn. The etiology of PRS is not known, but several factors may be involved simultaneously. Mortality rate of PRS is about 5~30% and the treatment method is divided into both conventional treatments and surgical interventions. If the respiratory obstruction is not resolved by the conventional method, surgical treatment, such as subperiosteal release of the floor of the mouth, tongue-lip adhesion, tracheostomy, distraction osteogenesis may be needed. This study reports a case of PRS in a newborn male at 20 days, with dyspnea and feeding difficulties. Clinical examination showed micrognathia with glossoptosis and cleft palate as the typical PRS triad. We tried surgical intervention with subperiosteal release of the floor of the mouth and tongue-lip adhesion and surgery was successful. At $19^{th}$ months, we also repaired the incomplete cleft palate successfully using 2-Flap palatoplasty.