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Severe Hyperhidrosis in Apert Syndrome: A Case Report

Lee H, Choi S, Yang JH, Moon J, Suh DH

  • KMID: 2465921
  • Korean J Dermatol.
  • 2019 Nov;57(9):548-550.
Apert syndrome is a rare genetic disorder characterized by malformations of the skull, face, hands, and feet. We report a case of severe hyperhidrosis in a 13-month-old female infant with...
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Hypomelanosis of Ito with Multiple Congenital Anomalies

Yu DA, Kwon O, Kim KH

Hypomelanosis of Ito (HI) is a neurocutaneous disorder, also known as incontinentia pigmenti achromians. HI has been associated with chromosomal abnormalities, especially mosaicism. Herein, we report a case of HI...
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Macrodystrophia lipomatosa of bilateral hands and the left upper limb with syndactyly

Oh SJ

No abstract available.
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Dorsal Bilobed Rectangular Flap and Volar Triangular Flap with Back-Cuts in the Correction of Hand Syndactyly

Oh SJ

PURPOSE: Syndactyly is a one of the most common congenital anomalies of the hand. Each patient requires a thorough assessment of the soft-tissue and bony components within the syndactylized region....
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Analysis of Congenital Postaxial Polydactyly of the Foot Using Magnetic Resonance Imagings

Woo SH, Baek HS, Kim YK, Choi JY

PURPOSE: We aimed to evaluate the magnetic resonance imaging (MRI) findings of congenital postaxial polydactyly of the foot. MATERIALS AND METHODS: Three-hundred and forty-seven feet of 288 patients who underwent congenital...
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Surgical Treatment of Syndactyly of Harlequin Ichthyosis

Ahn SJ, Hong JW

Harlequin ichthyosis (HI) is a rare and most severe form of autosomal recessive congenital ichthyoses characterized by excessive hyperkeratosis. The skin anomalies affect the shape of eyes, ears, nose, mouth,...
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Aberrant growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome

Cha BK, Choi DS, Jang IS, Yook HT, Lee SY, Lee SS, Lee SK

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...
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Van der Woude syndrome presenting as a single median lower lip pit with associated dental, orofacial and limb deformities: a rare case report

Richardson S, Khandeparker RV

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...
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Surgical Treatment of Axial Polysyndactyly and Postaxial Polydactyly of The Hand in Korean: A Clinical Analysis of 24 Cases

Kim BJ, Choi JH, Kwon ST

PURPOSE: Non-preaxial polydactyly of the hand refers to axial polysyndactyly involving the 2nd, 3rd, or 4th finger and postaxial polydactyly involving the 5th finger. It has a much lower incidence...
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Almost Unilateral Focal Dermal Hypoplasia

Lee S, Choe SJ, Ahn SK

Focal dermal hypoplasia, caused by mutations in PORCN, is an X-linked ectodermal dysplasia, also known as Goltz syndrome. Only seven cases of unilateral or almost unilateral focal dermal hypoplasia have...
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Megalencephaly-capillary malformation-polymicrogyria syndrome: the first case report in Korea

Choi YC, Yum MS, Kim MJ, Lee YJ, Ko TS

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...
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Foot Syndactyly: A Clinical and Demographic Analysis

Kim JH, Kim BJ, Kwon ST

BACKGROUND: Syndactyly of the foot is the second most common congenital foot anomaly. In East Asia, however, no large case study has been reported regarding the clinical features of isolated...
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Megalencephaly-capillary Malformation Syndrome

Park SM, Kim GW, Cho HH, Kim WJ, Mun JH, Song M, Kim HS, Kim BS, Kim MB, Ko HC

  • KMID: 2046266
  • Korean J Dermatol.
  • 2015 Aug;53(7):546-551.
Megalencephaly-capillary malformation syndrome is a disorder characterized by megalencephaly or hemimegalencephaly, focal or generalized somatic overgrowth, and vascular malformations. Other characteristic features are neonatal hypotonia, hydrocephalus, developmental delay, syndactyly/polydactyly, frontal...
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A case of Smith-Lemli-Opitz syndrome confirmed by molecular analysis: Review of mutation spectrum of the DHCR7 gene in Korea

Oh MY, Kim JS, Kim JH, Cho JH, Lee BH, Kim GH, Choi JH, Yoo HW

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,...
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Prenatal diagnosis of a 7q21.13q22.1 deletion detected using high-resolution microarray

Kim KB, Ha JS, Shin SJ, Kim CS, Bae JG

We report a case of de novo 7q interstitial deletion detected by conventional karyotyping and by microarray of amniotic fluid sampled during the prenatal period. A 32-year-old pregnant woman was...
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New Classification of Polydactyly of the Foot on the Basis of Syndactylism, Axis Deviation, and Metatarsal Extent of Extra Digit

Seok HH, Park JU, Kwon ST

BACKGROUND: Polydactyly of the foot is one of the most frequent anomalies of the limbs. However, most classification systems are based solely on morphology and tend to be inaccurate and...
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Sudden Cardiac Arrest during Anesthesia in a 30-Month-Old Boy with Syndactyly: A Case of Genetically Proven Timothy Syndrome

An HS, Choi EY, Kwon BS, Kim GB, Bae EJ, Noh CI, Choi JY, Park SS

Timothy syndrome, long QT syndrome type 8, is highly malignant with ventricular tachyarrhythmia. A 30-month-old boy had sudden cardiac arrest during anesthesia induction before plastic surgery for bilateral cutaneous syndactyly....
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The First Web Space Free Flap of the Foot to Reconstruct the Pulp of Fingers

Kong BS, Kim YS, Lee HS, Jung DW, Kwak JY, Lee HS

  • KMID: 2321211
  • J Korean Soc Microsurg.
  • 2012 Nov;21(2):153-158.
PURPOSE: The first web space of the foot has a similar thickness and skin texture of the pulp of the fingers. Moreover, it has a reliable blood vessel and sensory...
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Treatment of Congenital toe Anomalies

Cha SM, Suh JS

  • KMID: 2181694
  • J Korean Foot Ankle Soc.
  • 2012 Sep;16(3):148-155.
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...
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Modified Seven-flap Web Plasty for Incomplete Syndactyly

Hwang SM, Kim HI, Ahn SM, Lim KR, Jung YH, Song JK

  • KMID: 2097588
  • J Korean Soc Surg Hand.
  • 2012 Jun;17(2):53-59.
PURPOSE: Incomplete syndactyly, due to either congenital or acquired, is uncommon. Many different surgical methods have been descirbed. We introduce the modification of seven flap-plasty for incomplete syndactyly and report...
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