• Journal of Korean Neurosurgical Society
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• 제59권3호
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• pp.214-218
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• 2016

Most craniosynostoses are sporadic, but may have an underlying genetic basis. Secondary and syndromic craniosynostosis accompanies various systemic diseases or associated anomalies. Early detection of an associated disease may facilitate the interdisciplinary management of patients and improve outcomes. For that reason, systematic evaluation of craniosynostosis is mandatory. The authors reviewed systematic evaluation of craniosynostosis with an emphasis on genetic analysis.

• 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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• 제17권4호
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• pp.211-217
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• 2016

Background: Nonsyndromic craniosynostosis is a relatively common craniofacial anomaly and various techniques were introduced to achieve its operative goals. Authors found that by using smaller bone fragments than that used in conventional cranioplasty, sufficiently rigid bone union and effective regeneration capacity could be achieved with better postoperative outcome, only if their stable fixation was ensured. Methods: Through bicoronal incisional approach, involved synostotic cranial bone together with its surrounding areas were removed. The resected bone flap was split into as many pieces as possible. The extent of this 'multi-split osteotomy' depends on the degree of dysmorphology, expectative volume increment after surgery and probable dead space caused by bony gap between bone segments. Rigid interosseous fixation was performed with variable types of absorbable plate and screw. In all cases, the pre-operational three-dimensional computed tomography (3D CT) was checked and brain CT was taken immediately after the surgery. Also about 12 months after the operation, 3D CT was checked again to see postoperative morphology improvement, bone union, regeneration and intracranial volume change. Results: The bony gaps seen in the immediate postoperative brain CT were all improved as seen in the 3D CT after 12 months from the surgery. No small bone fragment resorption was observed. Brain volume increase was found to be made gradually, leaving no case of remaining epidural dead space. Conclusion: We conclude that it is meaningful in presenting a new possibility to be applied to not only nonsyndromic craniosynostosis but also other reconstructive cranial vault surgeries.

• Journal of Genetic Medicine
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• 제13권1호
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• pp.31-35
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• 2016

Antley-Bixler syndrome (ABS) is a rare form of syndromic craniosynostosis with additional systemic synostosis, including radiohumeral or radioulnar synostosis. Another characteristic feature of ABS is mid-facial hypoplasia that leads to airway narrowing after birth. ABS is associated with mutations in the FGFR2 and POR genes. Patients with POR mutations present with either skeletal manifestations or congenital adrenal hyperplasia with ambiguous genitalia. We report here two cases of ABS caused by mutations in FGFR2 and POR. Although the patients had craniosynostosis and radiohumeral synostosis in common and cranioplasty was performed in both cases, the male with POR mutations showed an elevated level of $17{\alpha}$-hydroxyprogesterone during newborn screening and was diagnosed with congenital adrenal hyperplasia by adrenocorticotropic hormone stimulation. This patient has been treated with hydrocortisone and fludrocortisone. He had no ambiguous genitalia but had bilateral cryptorchidism. On the other hand, the female with the FGFR2 mutation showed severe clinical manifestations: upper airway narrowing leading to tracheostomy, kyphosis of the cervical spine, and coccyx deformity. ABS shows locus heterogeneity, and mutations in two different genes can cause similar craniofacial and skeletal phenotypes. Because the long-term outcomes and inheritance patterns of the disease differ markedly, depending on the causative mutation, early molecular genetic testing is helpful.