• 대한정형외과학회지
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• 제53권6호
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• pp.530-539
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• 2018

목적: 족부에 발생한 선천성 축후성 다지증에 자기공명영상 검사를 실시하여 그 결과에 대해 평가하고자 한다. 대상 및 방법: 족부에 발생한 선천성 축후증 다지증 및 다지합지증으로 수술을 시행받은 347예(288명)에 대하여 단순 방사선 사진상에 나타나는 변형이 시작되는 부위에 따라 다섯 개의 군으로 분류하였다(넓은 중족골두, 이분중족, 유합된 복제, 불완전 복제, 완전복제 군). 골화가 이루어지지 않아 단순 방사선 사진상 나타나지 않는 부위에 대하여 자기공명영상 검사를 실시하여 유합 혹은 분리여부를 확인하였다. 또한 단순 방사선 사진상 지골 형성이 되지 않은 것처럼 보이는 부분에 대해서도 자기공명영상 검사를 실시하였다. 결과: 단순 방사선 사진상 골화가 이루어지지 않은 부분에 있어서 자기공명영상 검사를 실시하여 보니 잉여지와 고유지 간 유합 혹은 분리되는 양상이 다양하게 관찰되었다. 또한 지골 형성이 이루어지지 않은 듯 보이는 부분에 대해서도 지골의 상태를 효과적으로 알 수 있게 하였다. 결론: 족부에 발생한 선천성 축후성 다지증에 실시하는 자기공명영상 검사는 단순 방사선 사진에서 확인되지 않는 부분에 대한 정확한 해부학적 상태를 알려줄 수 있는 유용한 장치로 사용될 수 있다.

• Journal of Genetic Medicine
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• 제5권2호
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• pp.136-138
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• 2008

Townes-Brocks 증후군은 이형성 귀, 청력 상실, preaxial polydactyly, triphalangeal thumbs, 쇄항, 신기형, 선천성 심질환, 정신 지체 등을 동반하는 다기형의 상염색체 우성 유전질환이다. 그러나 갑상선 기능저하증은 Townes-Brocks 증후군의 흔한 특징은 아니다. 현재까지 갑상선 기능저하증과 동반된 Townes-Brocks 증후군은 3례가 보고된 바 있다. 저자들은 한국에서 최초로 갑상선 기능저하증과 동반된 Townes-Brocks 증후군 1례를 보고한다.

• Journal of Genetic Medicine
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• 제10권1호
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• pp.57-61
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• 2013

Acromegaloid Facial Appearance syndrome is a very rare syndrome combining acromegaloid-like facial appearance, thickened lips and oral mucosa and acral enlargement. Progressive facial dysmorphism is characterized by a coarse facies, a long bulbous nose, high-arched eyebrows, and thickening of the lips, oral mucosa leading to exaggerated rugae and frenula, furrowed tongue and narrow palpebral fissures. We report a case of acromegaloid facial appearance syndrome in a 19-year-old male patient who presented with all the characteristic features of the syndrome along with previously unreported anomalies like dystrophic nails, postaxial polydactyly and incisal notching of teeth.

• Childhood Kidney Diseases
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• 제2권2호
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• pp.200-203
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• 1998

The Laurence Moon-Bardet Biedl syndrome is characterized by obesity, mental retardation, visual impairment with retinitis pigmentosa, polydactyly, hypogonadism and renal manifestations. We experienced an 11 years old female with Laurence Moon-Baret Biedl syndrome associated chronic renal failure. She was diagnosed to have LMB syndrom according to the clinical manifestations of polydactyly on hands and feet, mental retardation, obesity, retinitis pigmentosa and chronic renal failure. She is on maintenance hemodialysis now.

• Imaging Science in Dentistry
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• 제41권4호
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• pp.167-170
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• 2011

Ellis-van Creveld syndrome is a rare congenital genetic disorder having autosomal recessive inheritance. It is a syndrome affecting the Amish population of Pennsylvania in USA with prevalence rate of 1/5,000 live at birth. In non-Amish population, the birth prevalence is 7/1,000,000. The syndrome is characterized by bilateral postaxial polydactyly of the hands, chondrodysplasia of long bones resulting in acromesomelic dwarfism, ectodermal dysplasia affecting nails as well as teeth and congenital heart malformation. There were very rare reports of this syndrome in dentistry. The present case focuses on the striking and constant oral findings of these patients, which are the main diagnostic features of this syndrome. Since the oral manifestations affect the esthetic, speech, and jaw growth of the child, the dentists have an important role to play in proper management of such case.

• 대한족부족관절학회지
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• 제16권3호
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• pp.148-155
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• 2012

There are many different type of congenital toe anomalies such as syndactyly, polydactyly which are more common, and less frequently macrodactyly and curly toe. Congenital anomaly of hand can decrease the hand function and easy to be visualized, so the early treatment of anomaly is natural and recommended. On the other hand, Congenital anomaly of foot rarely decrease the foot function and was hidden in the shoe, so treatment of anomaly was delayed frequently. However, the surgery can be needed, as the foot getting grown-up, discomfort of shoe fitting or intractable plantar keratosis due to secondary deformation of foot can occur. A distinct feature and surgical consideration was compared with congenital anomaly of hand and it should be taken into account in the treatment of adult toe anomalies.

• Archives of Plastic Surgery
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• 제46권6호
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• pp.610-611
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• 2019

• Neonatal Medicine
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• 제16권1호
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• pp.89-93
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• 2009

저자들은 당뇨병이 임신 초기부터 진단된 산모에서 출생한 신생아에서 작은 악안면, 우측소이증, 오른손의 손가락다지증, 오른쪽 눈물샘의 위치 이상이 동반된 상검판 기형, 근위부 공장폐쇄증을 지닌 사례와 수술 후 공장 부위의 협착증을 중재적 방사선 시술로 치료하였기에 문헌 고찰과 함께 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제57권6호
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• pp.292-296
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• 2014

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently low-set ears, micrognathia, microcephaly, abnormal hands and feet, variable cardiac or genital anomalies, moderate to severe mental retardation, and growth retardation. Using fluorescent in situ hybridization (FISH) analysis to map precisely the deletion, we present a case of chromosome 1q44 deletion with craniofacial characteristics, multiple congenital anomalies, and growth and psychomotor retardation. In comparison with other reported cases of 1q43-44 deletion, the subject does not show hydrocephalus, seizure, syn- or polydactyly of hands, and a urogenital anomaly. However, an arachnoid cyst, pinpoint dimple on the midline of the forehead, a right-sided supernumerary nipple and auricular pit, polydactyly of the right foot, adducted thumb, and flexion restriction of the proximal interphalangeal joint with a simian line in both hands were observed additionally.

• Clinical and Experimental Pediatrics
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• 제54권5호
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• pp.219-223
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• 2011

McKusick-Kaufman syndrome (MKS) is an autosomal recessive multiple malformation syndrome characterized by hydrometrocolpos (HMC) and postaxial polydactyly (PAP). We report a case of a female child with MKS who was transferred to the neonatal intensive care unit of Seoul National University Children's Hospital on her 15th day of life for further evaluation and management of an abdominal cystic mass. She underwent abdominal sonography, magnetic resonance imaging, genitography and cystoscopy which confirmed HMC with a transverse vaginal septum. X-rays of the hand and foot showed bony fusion of the left third and fourth metacarpal bones, right fourth dysplastic metacarpal bone and phalanx, right PAP and hypoplastic left foot with left fourth and fifth dysplastic metatarsal bones. In addition, she had soft palate cleft, mild hydronephroses of both kidneys, hypoplastic right kidney with ectopic location and mild rotation, uterine didelphys with transverse vaginal septum and low-type imperforated anus. She was temporarily treated with ultrasound-guided transurethral aspiration of the HMC. Our patient with HMC and PAP was diagnosed with MKS because she has two typical abnormality of MKS and she has no definite complications of retinal disease, learning disability, obesity and renal failure that develop in Bardet-Biedl syndrome, but not in MKS until 33 months of age. Here, we describe a case of a Korean patient with MKS.