• Journal of Acupuncture Research
• /
• 제25권3호
• /
• pp.205-213
• /
• 2008

The purpose of this case is to report the improvement after treatment on the patient who has development disabilities with Goldenhar's syndrome. We treated the patient with acupuncture treatment from 10th November 2006 to 22nd May 2008. We checked the patient with Goldberg's Developmental Milestone. After treatment developmental levels of cognition, motion, language and sociability were improved. This case shows oriental medical treatment has useful effect on development disabilities.

• 한국콘텐츠학회논문지
• /
• 제11권11호
• /
• pp.286-295
• /
• 2011

본 연구는 전반적인 발달지연, 감각 예민성, 촉각 방어와 작업수행의 문제를 가진 골덴하르 증후군 아동에게 감각통합치료를 적용하여, 골덴하르 증후군 아동의 감각통합 치료적 중재 개입방향을 제시하고자 하였다. 본 증례 아동은 만 7세 10개월 남아로 학교와 일상생활에서, 놀이와 학습에 대한 어려움, 운동발달 지연을 주 호소로 하여 검사가 의뢰되었다. 감각통합치료를 위한 평가로 캐나다 작업수행 측정(Canadian Occupational Performance Measure)시 바른 자세로 한글 읽고 쓰기가 첫째 작업수행 목표로 나타났고, 단축 감각프로파일(Short Sensory Profile) 과 감각 인터뷰에서는 감각 예민성과 촉각 처리영역에서 확연한 차이로 감각통합치료 중재가 요구되었다. 발달 프로파일 -3(Developmental Profile -3)은 5개 발달영역에서 전반적인 발달 지연이 나타났고, 운동 숙련도 검사 (Bruininks-Oseretsky Test of Motor Proficiency-2)에서 운동발달 수준이 평균 이하로 나타났다. 본 증례 아동에 대한 감각통합 치료를 통해 전반적인 발달, 감각예민성, 촉각방어와 같은 감각조절 기능이 향상되고, 작업수행이 개선되는데 도움이 되었다. 본 사례연구를 통해서 국내 골덴하르 증후군 아동의 감각통합치료 접근법에 기초 자료가 될 것이라고 사료된다.

• Journal of Genetic Medicine
• /
• 제12권1호
• /
• pp.44-48
• /
• 2015

Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the classic triad of congenital anomalies of the anus, thumbs, and ears, with variable expressivity. Additionally, renal malformations, cardiac anomalies, and endocrine and eye abnormalities can accompany TBS, although less frequently. TBS is inherited in an autosomal dominant fashion; however, about 50% of patients have a family history of TBS and the remaining 50% have de novo mutations. SALL1, located on chromosome 16q12.1, is the only causative gene of TBS. SALL1 acts as a transcription factor and may play an important role in inducing the anomalies during embryogenesis. Clinical features of TBS overlap with those of other multiple anomaly syndromes, such as VACTERL syndrome, Baller-Gerold syndrome, Goldenhar syndrome, cat eye syndrome, and Holt-Oram syndrome. Consequently, there are some difficulties in differential diagnosis based on clinical manifestations. Herein, we report a Korean family with two generations of TBS that was diagnosed based on physical examination findings and medical history. Although the same mutation in SALL1 was identified in both the mother and the son, they displayed different clinical manifestations, suggesting a phenotypic diversity of TBS.

• 대한치과교정학회지
• /
• 제50권6호
• /
• pp.383-390
• /
• 2020

Objective: To investigate the distribution, side involvement, phenotype, and associated anomalies of Korean patients with craniofacial clefts (CFC). Methods: The samples consisted of 38 CFC patients, who were treated at Seoul National University Dental Hospital during 1998-2018. The Tessier cleft type, sex, side involvement, phenotype, and associated anomalies were investigated using non-parametric statistical analysis. Results: The three most common types were #7 cleft, followed by #0 cleft and #14 cleft. There was no difference between the frequency of male and female. Patients with #0 cleft exhibited nasal deformity, bony defect, and missing teeth in the premaxilla, midline cleft lip, and eye problems. A patient with #3 cleft (unilateral type) exhibited bilateral cleft lip and alveolus. All patients with #4 cleft were the bilateral type, including a combination of #3 and #4 clefts, and had multiple missing teeth. A patient with #5 cleft (unilateral type) had a posterior openbite. In patients with #7 cleft, the unilateral type was more prevalent than the bilateral type (87.0% vs. 13.0%, p < 0.001). Sixteen patients showed hemifacial microsomia (HFM), Goldenhar syndrome, and unilateral cleft lip and palate (UCLP). There was a significant match in the side involvement of #7 cleft and HFM (87.5%, p < 0.01). Patients with #14 cleft had plagiocephaly, UCLP, or hyperterorbitism. A patient with #30 cleft exhibited tongue tie and missing tooth. Conclusions: Due to the diverse associated craniofacial anomalies in patients with CFC, a multidisciplinary approach involving a well-experienced cooperative team is mandatory for these patients.