- A Case of Williams Elfin Facies Syndrome
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Shin KJ, Song HS, Park BS, Choi IS, Joo CU, Jo JK
- KMID: 1677016
- J Korean Pediatr Soc.
- 1987 Jun;30(6):684-690.
No abstract available. -
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- Anesthetic experience in a child with femoral hypoplasia-unusual facies syndrome
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Kang MH, Lee JM, Lim KJ, Park EY, Lee SK
- KMID: 1965367
- Korean J Anesthesiol.
- 2013 Dec;65(6 Suppl):S89-S90.
- doi: 10.4097/kjae.2013.65.6S.S89
No abstract available. -
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- Correction of Asymmetric Crying Facies with Botulinum Toxin A Injection: A Case Report
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Park SO, Kim MH, Song JY, Park JU, Yun BM, Choi TH, Kim S
- KMID: 1918074
- J Korean Cleft Palate-Craniofac Assoc.
- 2011 Oct;12(2):125-128.
PURPOSE: Asymmetric crying facies is caused by agenesis or hypoplasia of the depressor anguli oris muscle and is often associated various anomalies. Several static and dynamic surgical interventions have been... -
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- A Case of Weaver Syndrome
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Byun JC, Kim CS, Lee SL, Kwon TC, Lee HJ
- KMID: 1655420
- Korean J Pediatr.
- 2004 Nov;47(11):1216-1219.
Weaver syndrome is a very rare overgrowth syndrome with accelerated skeletal maturation, unusual facies and clinodactyly. We experienced an extremely rare case of Weaver syndrome in Korea. The clinical manifestations... -
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- Two Cases of Asymmetric Crying Facies: Congenital Agenesis of the Depressor Anguli Oris Muscle
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Park SP, Kim JE, Kim JI, Jung BW, Kim JY, Suh CK, Hyun MC
- KMID: 2342486
- J Korean Neurol Assoc.
- 1995 Jun;13(2):334-340.
Asymmetric crying facies are caused by unilateral weakness of the depressor muscles of lower lip, which is most obvious during crying and is associated with other congenital anomalies, especially congenital... -
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- A Case of Unusual Form of Williams Syndrome
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Kim NK, Lim DH, Kim JH, Kang SU
- KMID: 2093284
- Korean Circ J.
- 1991 Apr;21(2):361-366.
- doi: 10.4070/kcj.1991.21.2.361
Williams syndrome is a progressive and multisystemic disorder. We experienced one case of Willams syndrome which was characterized by elfin facies, mental retardation, diffuse aortic hypoplasia, mitral regurgitation and chronic... -
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- Two Cases of Anhidrotic Ectodermal Dysplasia with Atopic Dermatitis in Siblings
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Kim HS, Oh CW
- KMID: 2359800
- Ann Dermatol.
- 1998 Apr;10(2):91-96.
- doi: 10.5021/ad.1998.10.2.91
Anhidrotic ectodermal dysplasia (AED) is characterized by a well-known tetrad of anhidrosis, hypotrichosis, hypodontia, and typical facies with a wide constellation of developmental defects of tissues derived from the ectoderm.... -
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- A case of Kniest syndrome
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Yoo YJ, Na KC, Moon KR, Park SK, Park YB, Kee KH
- KMID: 1690712
- J Korean Pediatr Soc.
- 1993 Jan;36(1):138-143.
The Kniest syndrome is characterized by disproportionate dwarfism and Kyphoscoliosis which may be associated with flat facies with prominent eyes, cleft palate, hearing loss, myopia and limited joint motion. The... -
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- A Case of Chromosome Anomaly with 46,XY,del(15)(p12), Phenotypically Presenting Smith-Lemli-Opitz Syndrome
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Lee CH, Lee JS, Kim PK
- KMID: 2254852
- Korean J Nephrol.
- 1997 Jun;16(2):361-364.
Smith-Lemli-Opitz syndrome is characterized by unusual facies, microcephaly, mental and growth retardation, skeletal and genitourinary malformations. We present a 10-year old boy who visited us with chief complaints of urinary... -
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- Legg-Perthes Disease Associated with Cornelia de Lange Syndrome: A Case Report
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Lee DY, Choi IH, Moon HR, Yoon KS, Lee MC, Ahn JH
- KMID: 2445501
- J Korean Orthop Assoc.
- 1990 Apr;25(2):591-596.
- doi: 10.4055/jkoa.1990.25.2.591
The Cornelia de Lange syndrome is characterized by severe growth and mental retardation; typical facies; low-pitched, weak, growling cry, and various bone abnormalities, as was first described by Cornelia de... -
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- Hyperfamiliarity for Unknown Faces Syndrome Following Encephalitis
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Cho SY, Yang HJ, Jang IM, Yun CH, Kim S, Park SH
- KMID: 2191531
- J Korean Neurol Assoc.
- 2012 Nov;30(4):329-332.
Hyperfamiliarity for unknown faces (HFUF) is a rare disorder in which unfamiliar faces seem familiar. We report one case of HFUF syndrome. A 34-year-old woman was admitted as encephalitis with... -
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- A Case of Hypohidrotic Ectodermal dysplasia
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Kim JH, Lee MH, Haw CR
- KMID: 2230803
- Korean J Dermatol.
- 1995 Oct;33(5):961-966.
Hypohidrotic ectodermali dysplasia is a rare and heterogenous genodermatosis that is characterzed by hypohidrosis, hyptrichosis, dental hypoplasia, and a characteristic facies. A 16-month-old male was evaluated for anodontia and anhidrosis... -
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- Congenital Stapedial Fixation in Oto-Palato-Digital Syndrome: A Case Report
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Park KH, Lee DH, Kim SK
- KMID: 2274420
- Korean J Otolaryngol-Head Neck Surg.
- 1998 Mar;41(3):405-408.
The Oto-palato-digital syndrome is a generalized skeletal dysplasia resulting in short stature, characteristic facies, and unusual deformities of the hands and feet. In addition, cleft palate and other congenital malformations... -
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- The comparison of influence of difficulties in nasal breathing on dentition between different facial types
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Lee MJ, Lee CK, Kim SJ, Park JH, Chin BR, Lee HK
- KMID: 2154924
- Yeungnam Univ J Med.
- 1993 Jun;10(1):37-47.
- doi: 10.12701/yujm.1993.10.1.37
It is. commonly assumed that nasorespiratory function can exert a dramatic effect upon the development of the dentofacial complex. Specially, it has been stated that chronic nasal obstruction leads to mouth... -
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- A Case of Anhidrotic Ectodermal Dysplasia with Atopic Dermatitis
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Yim YS, Kim GI, Park CW, Lee CH
- KMID: 2251092
- Korean J Dermatol.
- 2001 Feb;39(2):226-228.
Anhidrotic ectodermal dysplasia(AED) is a rare hereditary disorder characterized by hypohidrosis or anhidrosis, hypotrichosis, dental hypoplasia and characteristic facies. Additional less consistent symptoms include nail dystrophy, hyperkeratosis of the palms... -
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- Osteoma cutis in Albright's Hereditary Osteodystrophy
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Jung JN, Cho YH, Seo JH, Kim DH, Chung KY
- KMID: 2086815
- Korean J Dermatol.
- 2004 Apr;42(4):493-495.
Albright's hereditary osteodystrophy is an inherited syndrome that encompasses endocrinologic anomaly of pseudohypoparathyroidim or less commonly, pseudo-pseudohypoparathyroidism and various physical stigmata such as mental retardation, short stature, skeletal anomaly of... -
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- Noonan Syndrome with Double-Chambered Right Ventricle and Atrial Septal Defect: 1 Case Report
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Park YW, Lee SY, Jeong YS, Yum W
- KMID: 2289050
- Korean J Thorac Cardiovasc Surg.
- 2000 May;33(5):419-421.
Noonan syndrome is characterized by typical facies, congenital heart defect, and some clinical features similar to Turner syndrome, but with normal chromosomes. The most commonly associated cardiac defects are pulmonary valvular stenosis... -
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- Phenol peeling for treatment of deep wrinkle in leprosy patient
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Ahn SY, Park HJ
- KMID: 1512581
- Korean Lepr Bull.
- 2007 Dec;40(2):51-60.
The untreated leprosy skin takes on a waxy appearance & feel full. Thickening is most marked over the face, which starts to devolp into folds, hanging down to produce the... -
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- Acromegaloid Facial Appearance Syndrome: A New Case in India
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Rai A, Sattur AP, Naikmasur
- KMID: 2055581
- J Genet Med.
- 2013 Jun;10(1):57-61.
- doi: 10.5734/JGM.2013.10.1.57
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,... -
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- Anesthetic managements for repair of atrial septal defect in a patient with Young-Simpson Syndrome: A case report
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Kim SH, Kim TY, Jung HS, Kang JE, Oh CS, Kim DK, Yoon TG
- KMID: 2299324
- Korean J Anesthesiol.
- 2009 Feb;56(2):225-229.
- doi: 10.4097/kjae.2009.56.2.225
Young-Simpson Syndrome (YSS) is a rare malformation syndrome characterized by facial dysmorphism, congenital heart abnormalities, congenital hypothyroidism and severe growth retardation. A 5-month-old girl was scheduled to undergo patch closure... -
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