• Clinical and Experimental Pediatrics
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• 제46권6호
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• pp.606-609
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• 2003

저자들은 특징적인 진찰 소견과 피부 조직 생검에서 제 I형 교원질 유전자 발현의 감소를 보인 Goltz 증후군 1례를 경험하였기에 보고하는 바이다.

• 대한유전성대사질환학회지
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• 제14권1호
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• pp.60-65
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• 2014

스미스-렘리-오피츠 증후군은 상염색체 열성유전질환으로 콜레스테롤 합성의 장애로 나타나는 질병이다. 7-dehydrochlolesterol reductase 유전자의 변이로 인하여 콜레스테롤을 합성하지 못함으로써 정신지체, 자폐증, 발육부진, 내부장기 기형, 손과 발의 기형, 면역기능 저하, 소화기 및 시력의 문제 등이 나타난다. 이 질환은 경미한 증상에서부터 치명적인 증상까지 다양한 스펙트럼을 가진다. 저자들은 다양한 기형을 가진 환아에서 조기에 스미스-렘리-오피츠 증후군을 유전자 분석을 통하여 진단하였으며, 조기 진단 후 식이진행 및 기형에 대한 치료, 콜레스테롤을 보충 하였으며, 이를 문헌고찰과 함께 보고하는 바이다.

• Journal of Genetic Medicine
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• 제11권2호
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• pp.86-90
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• 2014

Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder caused by 7-dehydrocholesterol reductase deficiency. The characteristic clinical features are syndactyly of the second and third toes, facial dysmorphism, multiple malformations, and intellectual disability. Few cases of SLOS have been reported in Korea. We observed a male patient with SLOS who presented with typical facial features, undescended testes, microcephaly, bilateral syndactyly of the second and third toes, and cardiac defects, including patent ductus arteriosus and atrial septal defect. Mutation analysis of the DHCR7 gene identified compound heterozygous mutations of c.907G>A (p.Gly303Arg) and c.1055G>A (p.Arg352Gln). In a review of the literature, c.1054C>T (p.Arg352Trp) was the most common mutation reported in Far East Asian countries. This report describes the clinical features, biochemical data, molecular characteristics, and clinical outcome of a Korean patient with SLOS.

• Asian-Australasian Journal of Animal Sciences
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• 제23권10호
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• pp.1282-1290
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• 2010

The study was carried out to assess the developmental abnormalities induced by Cytotec in mice during intrauterine life. Pregnant mice were exposed to a single dose of 0, 0.02, 0.04, 0.06, 0.08 and $0.1{\mu}g$/g BW on day 8 of gestation. Fetuses were recovered on day 18 of gestation. These fetuses were subjected to morphological and morphometric studies. Morphological studies showed abnormalities like anophthalmia, microophthalmia, micromelia and syndactyly. In addition to these, resorptions were also encountered in the higher dose groups. Morphometric analysis showed an overall reduction in body weight, crown rump length, brain and eye circumference, pinna and snout size, length of fore and hind limb and tail size with a significant difference (p<0.001) compared to controls. The outcomes of histological studies revealed some brain defects like hydrocephaly, enlarged third ventricle and undifferentiated ectoneural cells and abnormalities of the heart included right auricle thrombosis and degeneration of trabecular zone.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제43권4호
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• pp.267-271
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• 2017

Although it is a rare developmental malformation, van der Woude syndrome is the most common form of syndromic orofacial clefting, accounting for approximately 2% of all cleft cases. The lower lip pits with or without a cleft lip or palate is characteristic of the syndrome. Findings, such as hypodontia, limb deformities, popliteal webs, ankylogossia, ankyloblepheron, and genitourinary and cardiovascular abnormalities, are rarely associated with the syndrome. This paper reports a rare case of van der Woude syndrome in a 10-year-old male patient with a single median lower lip pit and a repaired bilateral cleft lip and cleft palate that were associated with microstomia, hypodontia, and clubbing of the left foot with syndactyly of the second to fifth lesser toes of the same foot.

• 대한임상검사과학회지
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• 제39권2호
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• pp.63-67
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• 2007

A ring, monosomy and marker chromosome 13 was found in a 14 months old male with multiple congenital anomalies which suggested the deletion 13 syndrome. He presented development retardation, mental retardation, syndactyly of thumbs, xeroderma, dyspnea, dyslogia and face deformity diagnosed by chromosomal analysis using synchronized G-banding technique which revealed of 46,XY,r(13)(p13q34)[48]/45,XY,-13[28]/46,XY,-13,+mar[13]. We report this case with a brief review of the correlation between clinical features and the observed 13 polymorphism chromosome.

• 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.

• Clinics in Shoulder and Elbow
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• 제13권1호
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• pp.123-126
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• 2010

목적: Poland 증후군은 1841년 Alfred Poland에 의하여 처음 기술된 편측의 대흉근 결손과 동측 상지의 합지증 또는 단지증을 특징으로 하는 매우 드문 질환으로 알려져 있다. 대상 및 방법: 우측 전흉부의 비대칭으로 내원한 18세 남자 환자에 대해 이학적, 혈액학적, 방사선학적 검사를 시행하였다. 결과: 검사 결과 우측 대흉근의 결손과 우수의 단지증 소견을 보여 Poland 증후군으로 진단하였다. 결론: 저자들은 대흉근 건의 파열을 의심하였으나 우측 대흉근의 결손과 우수의 단지증의 소견을 보여 Poland 증후군 진단된 1예를 보고하고자 한다.

• 대한족부족관절학회지
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• 제3권1호
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• pp.53-57
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• 1999

Polydactyly is the most common congenital deformity of the foot. The authors present an unusal case of polydactyly of the foot in an otherwise healthy adult male. The patient has an mixed type of polydactyly composed of polysyndactyly of the first toe, Y shaped second metatarsal and polysyndactyly with the fusion to the forth toe of the fifth toe. Meticulous. preoperative plan was prepared and performed at the operation. Main procedures were as follows : 1) Excision of extradigit of first toe and first metatarsocuneiform joint fusion. 2) Excision of lateral bud of second metatarsal and plantar-medial osteotomy of the medial bud. 3) Metatarsal head resection arthroplasty of third & forth metatarsophalangeal joint and 4) Excision of medial polydactyly of the fifth toe and syndactyly release and split thickness skin graft. Postoperatively, The forefoot width was reduced from 11.5 to 9.5cm and the pain was relieved.

• Clinical and Experimental Pediatrics
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• 제59권sup1호
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• pp.152-156
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• 2016

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP), previously known as macrocephaly-cutis marmorata telangiectatica congenita and macrocephaly-capillary malformation syndrome, is a rare multiple-malformation syndrome that is characterized by progressive megalencephaly, capillary malformations of the midline face and body, or distal limb anomalies such as syndactyly. Herein, we report a female infant case that satisfies the recently proposed criteria of MCAP and describe the distinctive neuroradiological and morphological features. We have also reviewed recently published reports and the diagnostic criteria proposed by various authors in order to facilitate the clinical diagnosis of these children in pediatric neurology clinics.