• Journal of Genetic Medicine
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• v.17 no.2
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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.

• The Journal of the Korean dental association
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• v.10 no.6
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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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• v.13 no.3
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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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• v.35 no.3
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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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• v.30 no.3
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• pp.237-245
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• 2004

The deformities of micrognathia and glossoptosis in the newborn are frequently associated with a cleft palate, which is known as Pierre Robin sequence. Upper airway obstruction is the most serious problem in these patients. Treatment of Pierre Robin sequence includes either positional or surgical intervention. Mild cases are often managed in the prone position. However, when the patient fails to thrive due to chronic upper airway obstruction, or severe respiratory distress ensures despite positional treatment, surgical intervention is mandatory to relieve the obstruction. We experienced three infants with Pierre Robin sequence who showed a symptom triad of micrognathia, glossoptosis, and cleft palate. Intermittent cyanosis, depression of the chest, respiratory difficulty and feeding problems were also observed. To relieve severe upper airway obstruction caused by micrognathia and glossoptosis, we simultaneously performed modified tongue lip adhesion (TLA) and a subperiosteal release of the floor of the mouth (SRFM). Respiratory and feeding difficulties were relieved, the tongue positioned anteriorly, body weight increased, and mandibular growth improved. Simultaneous TLA and SRFM may constitute a simple and reliable method for surgical treatment of airway obstruction in patients with Pierre Robin sequence.

• Proceedings of the KOR-BRONCHOESO Conference
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• 1983.05a
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• pp.18.1-18
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• 1983

In 1923 Pierre-Robin first described the triad of micrognathia, glossptosis and high-arched or cleft palate. Respiratory distress is not an uncommon occurrence and requires prompt and appropriate treatment. The syndrome occurs once in approximately 50,000 births. Although the etiology of the syndrome is obscure, it is known that the syndrome probably results from a primary deficiency early in fetal life of mandibular development. The symptoms of airway obstruction develop as the base of the tongue falls posteriorly and approximates the posterior pharyngeal wall because of micrognathia, and is aggravated when the infant is in the supine position. The problems of mild airway obstruction can be solved by keeping the infant in the prone position. In case there are feeding difficulties, prompt glossopexy should be preformed as airway is aggravated, but tracheostomy is best avoided. There is some forms of glossopexy including Douglas operation, the insertion of Kirschner wire and Duhamel suture. We identified micrognathia, glossoptosis and high-arched palate in a 2-month-old infant who was brought to our hospital with complaints of dyspnea and feeding difficulties, and we reports this case, since we think this infant whom we observe after tracheostomy because we found Duhamel suture could not relieve the symptoms of airway obstruction as Pierre-Robin syndrome.

• Toxicological Research
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• v.19 no.3
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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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• v.26 no.11
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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.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.5 no.2
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• pp.92-95
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• 2009

In 1923, Pierre Robin, a French stomatologist, first reported the association of micrognathia with glossoptosis. As more than 80% of all Pierre Robin cases accompanied with other syndrome such as Stickler syndrome, velocardiofacial syndrome, fetal alcohol syndrome, Treacher Collins syndrome, etc, it is called Pierre Robin sequence(PRS). PRS is described in the literature as a triad of anomalies characterized by micrognathia, glossoptosis and cleft palate. Clinically, the triad consists of airway obstruction and feeding difficulty, which are more frequent and severe in the neonatal period. In this case, a 14-month old boy with PRS was referred to the department of pediatric dentistry, Yonsei university dental hospital, who resolved airway obstruction by lateral positioning and feeding problem by percutaneous endocutaneous gastrotomy insertion. PRS is a developmental disorder as well as an anatomic obstructive disorder, therefore it should be dealt with by a multidisciplinary team.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.33 no.3
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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.