• Clinical and Experimental Pediatrics
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• 제53권7호
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• pp.774-777
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• 2010

Pfeiffer syndrome is a rare autosomal dominant disorder characterized by coronal craniosynostosis, brachycephaly, mid-facial hypoplasia, and broad and deviated thumbs and great toes. Pfeiffer syndrome occurs in approximately 1:100,000 live births. Clinical manifestations and molecular genetic testing are important to confirm the diagnosis. Mutations of the fibroblast growth factor receptor 1 ($FGFR1$) gene or $FGFR2$ gene can cause Pfeiffer syndrome. Here, we describe a case of Pfeiffer syndrome with a novel c833_834GC>TG mutation (encoding Cys278Leu) in the $FGFR2$ gene associated with a coccygeal anomaly, which is rare in Pfeiffer syndrome.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제37권
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• pp.43.1-43.5
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• 2015

Image-guided surgery potentially enhances intraoperative safety and outcomes in a variety of craniomaxillofacial procedures. We explore the efficiency of one intraoperative navigation system in a single complex craniofacial case, review the initial and recurring costs, and estimate the added cost (e.g., additional setup time, registration). We discuss the potential challenges and benefits of utilizing image-guided surgery in our specific case and its benefits in terms of educational and teaching purposes and compare this with traditional osteotomies that rely on a surgeon's thorough understanding of anatomy coupled with tactile feedback to blindly guide the osteotome during surgery. A 13-year-old presented with untreated syndromic multi-suture synostosis, brachycephaly, severe exorbitism, and midface hypoplasia. For now, initial costs are high, recurring costs are relatively low, and there are perceived benefits of imaged-guided surgery as an excellent teaching tool for visualizing difficult and often unseen anatomy through computerized software and multi-planar real-time images.

• Journal of Yeungnam Medical Science
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• 제10권2호
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• pp.493-505
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• 1993

저자들은 1예의 선천성 피부결손증을 경험하고 국소피판술과 피부이식으로써 치료하고 술후 발생된 부분적 괴사는 습윤치료로써 자연치유시켜 만족스러운 결과를 얻었고, 4예의 craniosynostosis 환자를 진단하고 modified Marchac's method, Persing's method를 이용하고 교정하였고 CT를 이용한 뇌용적 측정으로 예후를 판정할 수 있었다.

• Clinical and Experimental Pediatrics
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• 제45권10호
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• pp.1288-1291
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• 2002

저자들은 임신 1개월 전 전신강직간대성 발작이 있어 임신 중에 발작 조절을 위해 valproate를 복용한 산모의 아이에게서 양 팔꿈치의 구축을 동반한 fetal valproate syndrome의 특징을 지닌 1례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다.

• Archives of Plastic Surgery
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• 제45권2호
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• pp.128-134
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• 2018

Background Non-syndromic craniosynostosis causes craniofacial asymmetry and may persist after cranioplasty. These postoperative asymmetries are primarily depressions. In some cases, patients may be subjected to pranks and harassment by their peers, affecting their psychosocial development. We propose lipoinjection enriched with adipose stem cells (ASCs) to treat the sequelae of craniosynostosis in the fronto-orbital and temporal complex in cranioplasty patients, with the goal of improving the appearance of the upper third of the face. Methods Twelve children (four boys and eight girls) between 4 and 8 years of age (mean age, 6 years) in the postoperative period after treatment for plagiocephaly, brachycephaly, and trigonocephaly were included, with a follow-up period of 1 to 18 months. Fat tissue was obtained from the lower abdomen, and ASCs were isolated using the Yoshimura technique. Lipoinjection was performed using several mini-approaches to ensure adequate distribution. Results Two different scales were used to evaluate the aesthetic outcomes. At 6 months, three plastic surgeons independent of the study classified the results using a Likert scale. The patients' parents categorized the results using a visual analog scale at 6, 9, and 18 months. R esults were favorable on both scales, as the patients' facial appearance improved and they reported increased happiness and self-esteem due to their remodeled facial appearance. Conclusions We suggest that lipoinjection enriched with ASCs is a good alternative for correcting asymmetry of the fronto-orbital and temporal contour in patients with sequelae of craniosynostosis. This treatment will help boost patients' self-esteem starting at an early age.

• 대한두개안면성형외과학회지
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• 제14권2호
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• pp.115-118
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• 2013

Craniosynostosis is a congenital anomaly in which cranial sutures close prematurely and restrict skull growth. In this paper, the case of two siblings, a male and a female, who were both diagnosed as craniosynostosis is reported. They underwent corrective osteotomy for cranial vault remodeling. A 22-month-old female infant who was brought to the department of plastic and reconstructive surgery of the authors' hospital was diagnosed with plagiocephaly. At the same time, her 7-month-old brother was diagnosed with brachycephaly. In the case of the female infant, corrective coronal osteotomy and supraorbital bar advancement were performed. Her brother underwent frontal advancement osteotomy using Tessier's tongue in the groove procedure. After the correction of the craniosynostosis, the two patients recovered in several days later, and the results were good in both cases cosmetically and functionally. They showed normal head circumference increasing curves and no symptom of functional disorder in their last follow-up. Isolated or nonsyndromic craniosynostosis is sporadic but mostly autosomal dominant. This paper presents a case of craniosynostosis with a genetic tendency; and although it occurred between siblings, the affected lesions differed. Thus, appropriate diagnosis and management in patients are needed.

• Journal of Genetic Medicine
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• 제8권2호
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• pp.130-134
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• 2011

Saethre-Chotzen 증후군은 상염색체 우성의 유전 방식을 보이는 두개골유합증후군(craniosynostosis)의 하나로, 원인 유전자는 TWIST1로 알려져 있다. Saethre-Chotzen 증후군의 임상 증상은 두개골유합증 중에서도 특히 관상봉합(coronal suture)이 편측 혹은 양측으로 조기에 폐쇄되는 것이 특징적이며, 이외에도 안검하수, 낮게 위치한 귀, 청력 소실, 손발가락의 기형 등 다양한 이상이 동반될 수 있다. 저자들은 양측성 관상봉합 두개골유합증과 특징적인 얼굴 모습, 다양한 동반 기형을 보인 두 명의 환자에서 TWIST1 유전자의 원인 돌연변이를 각각 확인하고 Saethre-Chotzen 증후군을 확진하였기에, 국내에서 처음으로 보고하는 바이다. 특히, TWIST1 유전자 분석은 관상봉합 유합증을 보이는 환자에서 질환을 확진하고, 및 환자와 가족에 대한 적절한 유전 상담을 제공하는데 유용한 검사로 생각된다.

• 대한소아치과학회지
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• 제30권3호
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• pp.341-347
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• 2003

Smith-Magenis syndrome(이하 SMS)은 제 17번 상염색체의 부분적 결손으로 발생하는 다발성 선천적 기형 및 정신지체를 특징으로 하는 증후군으로 1 : 25,000의 빈도로 발생하는 것으로 알려져 있다. 이 증후군은 작은 키와 단두증(brachycephaly)을 동반한 편평한 중안면, 처진 입, 종종 두드러지게 붉은 뺨, 성인에서 돌출된 턱 등의 특징적인 얼굴 생김새, 만성이염, 청각 손상, 사시와 근시를 포함한 눈의 이상, 목 쉰 소리, 짧은 손가락과 발가락, 심장 질환, 비뇨기 질환, 척추 만곡, 비정상적 걸음걸이, 통각에 둔감함 등의 신체적 특징을 지닌다. 특히 유아기에는 토실토실한 아기 얼굴, 행복한 기분, 드문 울음소리, 낮은 근 긴장도, 섭식 장애 등의 특징이 있다. 수면 장애를 포함하여 언어 지체 및 발음 장애, 발달지체, 학습 장애, 정신지체, 활동항진과 자해, 폭발적 분노, 지속되는 짜증, 파괴적이고 공격적인 행동, 흥분성, 흥분시에 팔로 안거나 손을 끼우는 행동 등의 행동 발달적 특징을 나타낸다. 본 증례는 3세 3개월된 남아로 생후 10개월에 SMS를 진단받은 환자로 상악 좌측 제 1유구치의 통증을 주소로 본과에 내원하였으며, 임상 및 방사선학적으로 다발성 우식증을 보였으며, 소아과 주치의에게 의뢰한 결과 심내막염의 예방을 위한 항생제의 처치를 처방 받고, 환아의 행동 발달적 문제로 인해 물리적 속박의 방법 하에 외래에서 치료되었다. 이 증례를 통해 SMS라는 희귀한 증후군에 관하여 보고하고자 한다.