• Journal of Korean Neurosurgical Society
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• v.65 no.1
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• pp.107-113
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• 2022

Objective : To describe the surgical management and postoperative outcomes in infants with metopic synostosis. Methods : We conducted a 5 years retrospective chart review of patients who underwent surgical correction of metopic synostosis at two university hospitals in Egypt during the period between June 2014 and June 2019. The study is conducted to 18 children. The type of surgical procedures and postoperative outcomes were assessed in all patients. Results : Five cases (27.8%) underwent endoscopic-assisted suturectomy, 10 cases (55.6%) underwent craniofacial reconstruction, and three cases (16.6%) underwent open burring of the metopic ridge. Fifteen patients underwent one surgery and three patients (16.6%) who need second operation. Ten patients (55.6%) had class I Whitaker classification. Conclusion : Regardless of type of surgery, the outcomes of surgical correction of metopic synostosis are excellent with only a few patients require revision or develop major complications.

• Neonatal Medicine
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• v.15 no.2
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• pp.200-206
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• 2008

Human chromosome 9 is characterized by a high degree of morphologic heteromorphisms, including variation in the size of the heterochromatin. We present a case of a de novo short arm addition of chromosome 9, [46, XY, add(9)(p13)], associated with multiple anomalies, including trigonocephaly, upward slant of the palpebral fissures, patent ductus arteriosus, pulmonary hypertension, hypertrophic cardiomyopathy, umbilical hernia, ambiguous genitalia, and sensorineural hearing and visual loss. This mutation affects the pericentric region of the heterochromatin. This patient exhibited a clinically important breakpoint of the heterochromatic region of chromosome 9 short arm and the associated anomalies.

• 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.

• 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.

• Clinical and Experimental Pediatrics
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• v.52 no.2
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• pp.242-246
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• 2009

The clinical features of ring chromosome 13 include mental and growth retardation, CNS anomalies, facial dysmorphism, cardiac defects, genital malformations, limb anomalies, skeletal deformities and anal malformations. Although many cases of ring chromosome 13 have been reported worldwide, only 6 cases have been reported in Korea, and the latter cases were not mosaic but pure ring chromosome 13. Here we report a case with mosaic ring chromosome 13. The baby boy was born at 37 weeks of gestation by induced vaginal delivery due to intrauterine growth restriction (IUGR). He was the second baby of a 28-year-old hepatitis B carrier mother and a 32-year-old father. There was no family history of chromosomal anomalies. The baby was a symmetric IUGR with a birth weight of 1,860 g, length of 44.8 cm, and head circumference of 29.4 cm. The physical examination revealed microcephaly, trigonocephaly, flat occiput, large ears, short neck and dysmorphic facial features, including microophthalmia, hypertelorism, antimongoloid slanting palpebral fissures, a flat nasal bridge, and micrognathia. The karyotype of this patient performed by peripheral blood lymphocytes was 46,XY,r(13)(p13q34)/45,XY,-13/46,XY,dic r(13;13)(p13q34;p13q34). The baby showed failure to thrive, hypotonia, and developmental delay. We report the first case of mosaic ring chromosome 13 in a male baby in Korea and compare this case with other Korean cases of non-mosaic ring chromosome 13.