• 대한치과교정학회지
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• 제17권2호
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• pp.311-320
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• 1987

The purpose of this study was to investigate the growth changes of maxilla and mandible and position changes of first permanent molars of growing children The author analyzed the data using cephalometric roentgenogram of 43 boys and 39 girls age of 6 to 11 with normal occlusion The obtained results were as follows 1 The eruption path of maxillary and mandibular first permanent molar superimposed on TM-ANS and mandibular plane shows individual variation 2 There was no correlation between horizontal and vertical changes of maxillary first permanent molar, but positive correlation in mandibular first permanent molar 3 As the eruption, the forward changes of mandibular first permanent molar was significantly greater than that of maxillary first permanent molar 4 As the ages were increased, there were irregular growth changes of maxilla and mandible 5 Growth changes of lower anterior facial height was relatively stable 6 N-S-${\bar{6}}$ was stable after age 7.

• Clinical and Experimental Pediatrics
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• 제55권7호
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• pp.224-231
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• 2012

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. The main clinical features include neonatal hypotonia, distinctive facial features, overall developmental delay, and poor growth in infancy, followed by overeating with severe obesity, short stature, and hypogonadism later in development. This paper reviews recent updates regarding the genetic aspects of this disorder. Three mechanisms (paternal deletion, maternal disomy, and deficient imprinting) are recognized. Maternal disomy can arise because of 4 possible mechanisms: trisomy rescue (TR), gamete complementation (GC), monosomy rescue (MR), and postfertilization mitotic nondisjunction (Mit). Recently, TR/GC caused by nondisjunction at maternal meiosis 1 has been identified increasingly, as a result of advanced maternal childbearing age in Korea. We verified that the d3 allele increases the responsiveness of the growth hormone (GH) receptor to endogenous GH. This paper also provides an overview of endocrine dysfunctions in children with PWS, including GH deficiency, obesity, sexual development, hypothyroidism, and adrenal insufficiency, as well as the effects of GH treatment. GH treatment coupled with a strictly controlled diet during early childhood may help to reduce obesity, improve neurodevelopment, and increase muscle mass. A more active approach to correct these hormone deficiencies would benefit patients with PWS.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.83-88
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• 2020

Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, a triangular face, body asymmetry, and feeding difficulties. It is primarily diagnosed according to a clinical scoring system; however, the clinical diagnosis is confirmed with molecular testing, and the disease is stratified into the specific molecular subtypes. SRS is a genetically heterogeneous condition. The major molecular changes are hypomethylation of imprinting control region 1 in 11p15.5 and maternal uniparental disomy of chromosome 7 (UPD(7)mat). Therefore, first-line molecular testing should include methylation-specific approaches for these regions. Here, we report an extremely low birth weight (ELBW) infant with intrauterine growth retardation, postnatal growth retardation, and dysmorphic facial appearance-characteristics consistent with the clinical diagnostic criteria of SRS. Methylation-specific molecular genetic analysis revealed UPD(7)mat, while the loss of heterozygosity was not detected on chromosomal microarray analysis. We present a case of SRS with suspected uniparental heterodisomy of chromosome 7 in an ELBW infant.

• 대한소아치과학회지
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• 제39권4호
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• pp.339-347
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• 2012

이 연구는 장기간의 호흡 양상이 성장기의 안모골격 형태에 미치는 영향을 알아보고자, 전북대학교 소아치과에 내원하여 교정 진단을 받은 환자 중, 골격성 I, II, III급 부정교합자들을 비호흡자와 구호흡자로 각각 20명씩 나누어 총 120명을 선택하였다. 측모두부규격방사선사진으로 기도공간과 안모골격 형태를 분석하여 연령별로 평가한 결과, 다음과 같은 결과를 얻었다. 골격성 I, II, III급 부정교합에서 비호흡자와 구호흡자를 비교한 결과, 안모골격 형태를 분석한 항목에서 유의한 차이를 발견할 수 없었다(p > 0.05). 그러나 12세 이상에서 골격성 I급 부정교합의 비호흡자가 구호흡자에 비해 Ad-S가 유의성 있게 증가하였고, H-Pc는 유의성 있게 감소하였다. 또한 골격성 II급 부정교합의 비호흡자는 구호흡자에 비해 Ar-Go가 유의성 있게 증가하였고, ML-NSL은 유의성 있게 감소하였다. 골격성 III급 부정교합자에서는 구호흡자가 비호흡자에 비해 SNA, SNB가 유의성 있게 감소하였다(p < 0.05). 골격성 I, II, III급 부정교합에 따른 호흡 양상과 안모골격 형태는 큰 연관성을 보이지 않았으나 구호흡을 하는 12세 이상의 골격성 II급 부정교합자에서 하악지의 길이 성장이 저해되고, 전안면 고경이 증가하였으며, 골격성 III급 부정교합에서는 상악골 성장 저해 및 하악의 시계방향 회전 경향이 유의성을 보이므로, 장기간 구호흡이 지속되는 경우 안모골격 형태에 악영향을 미칠 수 있다.

• Maxillofacial Plastic and Reconstructive Surgery
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• 제40권
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• pp.40.1-40.8
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• 2018

Background: A 9-year-old male showed severe defects in midface structures, which resulted in maxillary hypoplasia, ocular hypertelorism, relative mandibular prognathism, and syndactyly. He had been diagnosed as having Apert syndrome and received a surgery of frontal calvaria distraction osteotomy to treat the steep forehead at 6 months old, and a surgery of digital separation to treat severe syndactyly of both hands at 6 years old. Nevertheless, he still showed a turribrachycephalic cranial profile with proptosis, a horizontal groove above supraorbital ridge, and a short nose with bulbous tip. Methods: Fundamental aberrant growth may be associated with the cranial base structure in radiological observation. Results: The Apert syndrome patient had a shorter and thinner nasal septum in panthomogram, PA view, and Waters' view; shorter zygomatico-maxillary width (83.5 mm) in Waters' view; shorter length between the sella and nasion (63.7 mm) on cephalogram; and bigger zygomatic axis angle of the cranial base (118.2°) in basal cranial view than a normal 9-year-old male (94.8 mm, 72.5 mm, 98.1°, respectively). On the other hand, the Apert syndrome patient showed interdigitating calcification of coronal suture similar to that of a normal 30-year-old male in a skull PA view. Conclusion: Taken together, the Apert syndrome patient, 9 years old, showed retarded growth of the anterior cranial base affecting severe midface hypoplasia, which resulted in a hypoplastic nasal septum axis, retruded zygomatic axes, and retarded growth of the maxilla and palate even after frontal calvaria distraction osteotomy 8 years ago. Therefore, it was suggested that the severe midface hypoplasia and dysostotic facial profile of the present Apert syndrome case are closely relevant to the aberrant growth of the anterior cranial base supporting the whole oro-facial and forebrain development.

• Clinical and Experimental Pediatrics
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• 제59권2호
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• pp.91-95
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• 2016

We report the case of a 22-month-old boy with a new mosaic partial unbalanced translocation of 1q and 18q. The patient was referred to our Pediatric Department for developmental delay. He showed mild facial dysmorphism, physical growth retardation, a hearing disability, and had a history of patent ductus arteriosus. White matter abnormality on brain magnetic resonance images was also noted. His initial routine chromosomal analysis revealed a normal 46,XY karyotype. In a microarray-based comparative genomic hybridization (aCGH) analysis, subtle copy number changes in 1q32.1-q44 (copy gain) and 18q21.33-18q23 (copy loss) suggested an unbalanced translocation of t(1;18). Repeated chromosomal analysis revealed a low-level mosaic translocation karyotype of 46,XY,der(18)t(1;18) (q32.1;q21.3)[12]/46,XY[152]. Because his parents had normal karyotypes, his translocation was considered to be de novo. The abnormalities observed in aCGH were confirmed by metaphase fluorescent in situ hybridization. We report this patient as a new karyotype presenting developmental delay, facial dysmorphism, cerebral dysmyelination, and other abnormalities.

• Archives of Plastic Surgery
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• 제39권6호
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• pp.659-662
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• 2012

Progressive facial hemiatrophy, also known as Parry-Romberg syndrome, is a progressive and self-limited deformation of the subcutaneous tissue volume on one side of the face that creates craniofacial asymmetry. We present the case of a patient with a five-year history of progressive right facial hemiatrophy, who underwent facial volumetric restoration using cell-assisted lipotransfer (CAL), which consists of an autologous fat graft enriched with adipose-derived stem cells (ASCs) extracted from the same patient. ASCs have the capacity to differentiate into adipocytes. They also promote angiogenesis, release angiogenic growth factors, and some can survive as stem cells. The use of autologous fat as a filler in soft tissue atrophy has been satisfactory in patients with mild and moderate Parry-Romberg syndrome. Currently, CAL has showed promising results in the long term by decreasing the rate of fat reabsorption. The permanence and stability of the graft in all the injected areas has showed that autologous fat grafts enriched with stem cells could be a promising technique for the correction of defects caused by this syndrome.

• Archives of Plastic Surgery
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• 제39권4호
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• pp.333-337
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• 2012

Background Patients who have undergone enucleation during infancy due to retinoblastoma can develop microorbitalism due to the decreased growth stimulation from the eyeball and the surrounding soft tissues. Anatomically, the orbit consist of parts of the frontal bone superiorly, the maxilla inferiorly, the ethmoid bone medially, and the zygoma laterally. Considering the possibility of surgically expanding the orbit using tripod osteotomy, in this study we conducted tripod osteotomy on adult patients with microorbitalism of retinoblastoma. Methods Tripod osteotomy was conducted to expand the orbital volume in adult patients with microorbitalism due to enucleation in infancy for retinoblastoma. The orbital volume was measured using the Aquarius Workstation ver. 4.3.6 and the orbit width was measured with preoperative and postoperative 3-dimensional facial bone computed tomography (CT) imaging. Preoperative and postoperative photographs were used to visualize the difference produced by the surgery. Results The orbital volume of the affected side was 10.3 $cm^3$ before and 12.5 $cm^3$ after the surgery, showing an average increase in volume of 2.2 $cm^3$ (21.4%). The increase in the obital width was confirmed by the preoperative and postoperative 3-dimensional facial CT images and aesthetic improvement was observed by the preoperative and postoperative photographs. Conclusions Tripod osteotomy, which realigns the orbital bone, zygoma, and maxilla, is used to correct posttraumatic malunion as well as non-traumatic congenital abnormalities such as that seen in facial cleft. We applied this procedure in microorbitalism secondary to enucleation for retinoblastoma to allow orbital expansion and correct asymmetry.

• 대한소아치과학회지
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• 제28권2호
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• pp.287-292
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• 2001

Burkitt림프종은 중앙아프리카 지역의 어린이 악골에서 흔하게 나타나는 악성 종양으로 림프조직으로부터 발생되며 매우 빠른 성장 양상을 보인다. 임상적으로는 3~8세 아동에 주로 호발하며 악골에 발생하는 경우 안면부 종창이 나타날 수 있으며 유치의 비정상적 동요 및 구치부 조기 맹출등이 나타날 수 있다. 방사선 소견으로는 경계가 불규칙한 방사선투과성 병소로 나타나며 조직학적으로는 종양세포들 사이에 대식세포가 분포되어 "starry-sky" appearance의 특징적인 양상이 관찰된다. 본 증례는 좌측 안면부 종창을 동반한 유구치의 심한 동요도를 주소로 내원한 3세 남환아에서 임상 및 방사선 검사와 조직학적 검사를 통해 Burkitt림프종으로 진단하였고 항암 화학요법에 의해 치료중이며 양호한 치료 결과를 얻고 있다.

• 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.