• Clinical and Experimental Pediatrics
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• v.53 no.7
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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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• v.37
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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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• v.10 no.2
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• pp.493-505
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• 1993

The congenital cutis aplasia mainly occurs in head, sometimes involving the skull and dura mater. It's cause and the rate of falling ill are not known yet, it is the disease that rate of death is high by the infection, such as, the injured vascular hemorrhange of meningitis. Craniosynostosis is the disease the appears the skull as well as the facial deformity with growing, has from the developmental difficiency, visual distibance, motor disturbance, convulsion to the neurologic impairment of mental retardation, and accompanies the each characteristic deformity following the suture fused. Satisfactory results was achieved by local flap surgery and conservative treatment on the infant, diagnosed as the congenital cutis aplasia, case 1 Also successful treatment experiences of craniosynostosis(oxycephaly, brachycephaly, trigonocephaly, cloverleaf deformity) through the frontal bone advancement and the barrel stave asteotomy, were reviewed & pursues and investigates the intracranial volume of before and after of surgery, and then reports with the literature investigation.

• Clinical and Experimental Pediatrics
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• v.45 no.10
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• pp.1288-1291
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• 2002

Fetal valproate syndrome has been described as a distinctive pattern of minor anomalies of the face and digits. This pattern has not been delineated completely but appears to involve brachycephaly with a high forehead, shallow orbit, ocular hypertelorism, small nose, small mouth, low set posteriorly rotated ears, long overlapping fingers and toes, and hyperconvex fingernail. Cleft palate and congenital heart disease have occasionally been described in babies exposed to valproate during embryogenesis. We report a neonate born from an epileptic mother receiving sodium valproate during pregnancy. This neonate presented with characteristic facial abnormalities, both elbow contractures, and overlapping of right first and second toe, forth and fifth toe, and left first and second toe. This case raises the possibility that these abnormal appearances might be caused by intrauterine valproate exposure.

• Archives of Plastic Surgery
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• v.45 no.2
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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.

• Archives of Craniofacial Surgery
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• v.14 no.2
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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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• v.8 no.2
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• pp.130-134
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• 2011

Saethre-Chotzen syndrome is an autosomal dominant craniosynostosis syndrome, usually involving unior bilateral coronal synostosis and mild limb deformities, and is induced by loss-of-function mutations of the TWIST1 gene. Other clinical features of this syndrome include ptosis, low-set ears, hearing loss, hypertelorism, broad great toes, clinodactyly, and syndactyly. The authors of the present study report 2 children with clinical features of Saethre-Chotzen syndrome who showed mutations in the TWIST1 gene, and is the first molecular genetic confirmation of Saethre-Chotzen syndrome in Korea. The molecular genetic testing of the TWIST1 gene for patients with coronal synostoses is important to confirm the diagnosis and to provide adequate genetic counseling.

• Journal of the korean academy of Pediatric Dentistry
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• v.30 no.3
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• pp.341-347
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• 2003

Smith-Magenis syndrome (SMS) is a clinically recognizable multiple congenital anomaly and mental retardation syndrome caused by an interstitial deletion of chromosome 17 p11.2. Physical features include short stature, characteristic facial appearance: flattened mid-face, down-turned mouth, prominent and often rosy cheeks; prominent jaw in older children and adults, chronic ear infections, hearing impairment, eye problems, including: strabismus (an eye which turns in or out) and myopia (nearsightedness), hoarse voice, short fingers and toes, heart defects or murmurs, problems related to the urinary system, scoliosis (curvature of the spine), an unusual gait (walking pattern), and decreased sensitivity to pain. Behavioral and developmental characteristics include speech delay and articulation problems, developmental delay, learning disability, mental retardation, hyperactivity, self-injury, including: head banging; hand biting; picking at skin, sores and nails; pulling off finger- and toenails; inserting foreign objects into ears, nose, or other body orifices, explosive outbursts, prolonged tantrums, destructive and aggressive behavior, excitability, arm hugging or hand squeezing when excited. This report is the case of a Korean 3-year-3-month old male with Smith-Magenis syndrome referred from local clinic for the treatment of dental caries. The patient was treated by physical restraint after prophylatic administration of antibiotic(Amoxacillin 50mg/kg).