• 대한장애인치과학회지
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• 제7권2호
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• pp.119-122
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• 2011

연골무형성증 환아는 작은 키, 짧은 사지, 척추 측만, 아데노이드와 편도 비대 등의 특징적인 소견으로 인해 치과치료시 많은 주의를 요한다. 대부분의 환자들이 구호흡을 하기 때문에 치과 시술시 호흡이 어려우며, 척추 이상으로 인해 체어에 오래 누워있기 힘든 경우가 많아 이번 증례와 같이 다발성 우식증을 치료하기 위해서는 전신마취 하 시술이 필요한 경우도 있다. 연골무형성증 환아의 치과 진료시에는 타과와의 긴밀한 협조 하에 이러한 전신적인 특징을 이해하고 접근해야 할 것이다.

• Journal of mucopolysaccharidosis and rare diseases
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• 제2권2호
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• pp.46-49
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• 2016

Achondroplasia is autosomal dominant genetic disease and fibroblast growth factor receptor 3 (FGFR3) is currently known to be the only gene that causes achondroplasia. Gain-of function mutation in fibroblast-growth-factor-receptor 3 (FGFR3) causes the disease and C-type natriuretic peptide (CNP) antagonizes FGFR3 downstream signaling by inhibiting the pathway of mitogen-activated protein kinase (MAPK). As FGFR3-related skeletal dysplasias are caused by growth attenuation of the cartilage, chondrocytes appear to be unique in their response to FGFR3 activation. However, the full spectrum of molecular events by which FGFR3 mediates its signaling is just beginning to emerge. This article summaries the mechanisms of FGFR3 function in skeletal dysplasias, the extraordinary cellular manifestations of FGFR3 signaling in chondrocytes, and finally, the progress toward therapy for ACH.

• The Korean Journal of Pain
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• 제19권2호
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• pp.288-291
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• 2006

Epidural analgesia using an epidural catheter is an effective method to relieve the pain during the rehabilitating procedure for postoperative orthopedic patients. Total spinal anesthesia is one of the possible complications of epidural catheterization which can lead to a life-threatening condition. Achondroplasia is the most common form of short-limbed dwarfism resulting from a failure of endochondral bone formation. In patients suffering with short stature syndrome like achondroplasia, the incidence and risk of total spinal anesthesia during epidural anesthesia may increase because of the technical difficulty and structural anomaly of the spine. We report here on a 35-year old female patient with a height of a 115 cm. She was diagnosed as achondroplasia and she had a previous Ilizarov operation; both tibial lengthening and correction of valgus were done. No specific event occurred during epidural catheterization. Immediately after the injection of a test dose via epidural catheter, the patient became hypotensive, drowsy and showed weakness of both her upper and lower extremities. The symptoms were disappeared after 40 minutes. The catheter was removed on the next day. We concluded that the total spinal anesthesia was caused by intrathecal injection of local anesthetics through the epidural catheter, and the anesthesia then migrated into the subarachonoid space.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.46-50
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• 2016

Achondroplasia and hypochondroplasia are the two most common forms of short-limb dwarfism. They are autosomal dominant diseases that are characterized by a rhizomelic shortening of the limbs, large head with frontal bossing, hypoplasia of the mid-face, genu varum and trident hands. Mutations in the fibroblast growth factor receptor-3 (FGFR3) gene, which is located on chromosome 4p16.3, have been reported to cause achondroplasia and hypochondroplasia. More than 98% of achondroplasia cases are caused by the G380R mutation (c.1138G>A or c.1138G>C). In contrast, the N540K mutation (c.1620C>A) is detected in 60-65% of hypochondroplasia cases. Tests for common mutations are often unable to detect the mutation in patients with a clinical diagnosis of hypochondroplasia. In this study, we presented a case of familial hypochondroplasia with a rare mutation in FGFR3 identified by next generation sequencing.

• 수면정신생리
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• 제27권2호
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• pp.77-81
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• 2020

수면 무호흡증은 상기도가 좁아지거나 막히게 되면서 반복적인 수면 중 각성과 동맥내 산소포화도의 저하를 유발하는 수면관련 호흡장애이다. 이 질환은 연골무형성증과 같이 유전 질환을 가진 어린아이들에게서 상대적으로 그렇지 않은 아이들에 비해 더 취약하다. 연골무형성증은 안면골과 두개저의 형성 저하와 함께 선천적으로 대후공의 협착이 동반되는 것을 특징으로 하는 유전 질환으로 높은 빈도의 폐쇄 수면무호흡증을 나타낸다. 저자들은 연골 무형성증 환아에서 편도절제술 이후에도 지속되는 증상에 대해 수면 다원검사를 시행하여 중증 폐쇄성 수면 무호흡증 진단 및 지속기도양압 치료를 하였던 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• 대한소아치과학회지
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• 제21권2호
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• pp.504-509
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• 1994

Achondroplasia is characterized by undergrowth of long bones and cartilages and by low height. The name of this disease had been called classical chondrodystrophy, dyschondroplasia, chondrodystrophy and micromelia before Parrot reported the term of this disease as Achondroplasia. We are reporting in this paper on an 3-year and 4-month-old boy with achondroplasia. The dental findings are as follows: 1. Open bite and relatively mandibular prognathism were observed in the front teeth. 2. The size, number, shape, structure of the teeth were usual and the tongue was a little bigger than the normal. 3. The metacarpal bones were short and broadening. Mesial, distal border of the prox. phalanges were irregular and also trabecular pattern was abnormal in the hand-wrist P-A view. 4. According to lat. cephalometric analysis, the cranial basis was underdeveloped.

• 척추신경추나의학회지
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• 제8권2호
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• pp.131-139
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• 2013

Objectives : The purpose of this study is to investigate the efficacy of conservative treatment on Achondroplasia patient who has low back pain with radiation. Methods : The patient was treated by conservative treatment including acupuncture, pharmaco acupuncture, chu-na manipulation, herbal medicine. Numeric rating scale(NRS), Oswestry disability index(ODI) were used to evaluate pain reduction. Physical examination also used to compare with admission state and discharge state. Results : After 1 month admission treatment, NRS decreased 9 to 6, ODI dcreased 56 to 42, ROM improved as normal person. Conclusions : It was efficient that Achondroplasia patient who has low back pain with radiation treated as conservative treatment including acupuncture, pharmaco acupuncture, chu-na manipulation, herbal medicine. But It was just one case and treatments were carried out in Integrative Package. So further studies are required to compare that which treatment is efficient.

• Journal of Genetic Medicine
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• 제10권1호
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• pp.38-42
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• 2013

Purpose: The purpose of this study was to assess the characteristics of achondroplasia (ACH) diagnosed in fetuses or neonates and to evaluate the usefulness of a molecular genetic testing to confirm ACH. Materials and Methods: The medical and ultrasonographic records of 16 pregnant women, who had molecular genetic testing for ACH performed on their fetus or neonate at the Cheil General Hospital between February 1999 and April 2013, were retrospectively analyzed. Detection of G1138A and G1138C mutations of the fibroblast growth factor receptor 3 (FGFR3) gene was accomplished by polymerase chain reaction - restriction fragment length polymorphism analysis. Results: Of the eight fetuses and two neonates who were suspected of having ACH during pregnancy, four fetuses and one neonate was confirmed to have ACH and they all carried the heterozygous G1138A mutation. Out of 6 cases which had a history of ACH in prior pregnancies, three had genetic information for the previous fetuses while the other three did not. All six fetuses had no mutations at G380R. However, the one fetus of pregnant woman with non-confirmed ACH showed shortened long bone on ultrasound thereafter and the fetus was identified as having oto-spondylo-megaepiphyseal dysplasia after birth. Conclusion: Korean patients with achondroplasia have the heterozygous G1138A mutation that is most commonly defined in other countries. Molecular genetic evaluations of ACH are helpful not only for establishing diagnosis but for appropriate counseling with subsequent pregnancies.