- A Case of Linear and Whorled Nevoid Hypermelanosis
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Lim TW, Lee MH
- KMID: 1595216
- Korean J Dermatol.
- 2001 Apr;39(4):486-488.
Linear and whorled nevoid hypermelanosis(LWNH) is a congenital disorder which was first described by Kalter in 1988 and is characterized by asymmetrically distributed linear and whorled hyperpigmentation following Blaschko's lines.... -
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- A Case of Linear and Whorled Nevoid Hypermelanosis Associated with Congenital Hemihypertrophy
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Yang JS, Bae EY, Park YM, Kim HO, Kim CW
- KMID: 2086762
- Korean J Dermatol.
- 2003 Nov;41(11):1564-1567.
Linear and whorled nevoid hypermelanosis(LWNH) is a congenital disorder characterized by hyperpigmented macules in a linear and whorled pattern along Blaschko's lines, and develops a few weeks after birth. Skin... -
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- A Neonatal Case of Septo-Optic Dysplasia with Schizencephaly
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Lee WH, Kim EY, Park SK
- KMID: 2144511
- J Korean Soc Neonatol.
- 2009 May;16(1):81-84.
Septo-optic dysplasia is a rare congenital disorder characterized by the absence of the septum pallucidum, hypoplasia of the optic chiasma and nerves, and various types of hypothalamic-pituitary dysfunction. Schizencephaly is... -
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- Two Cases of Hallermann-Streiff Syndrome Diagnosed in Early Neonatal Period
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Choi YE, Choi JS, Kim YN, Song ES, Choi YY
- KMID: 2188354
- J Korean Soc Neonatol.
- 2012 Aug;19(3):146-153.
- doi: 10.5385/jksn.2012.19.3.146
Hallermann-Streiff syndrome is a very rare congenital disorder, which is primarily characterized by the head and face abnormalities. Approximately 180 cases have been reported worldwide, including 8 cases in Korea... -
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- Cystic Dysplasia of the Testis Associated with Ipsilateral Hypoplastic Type of Renal Dysplasia and Ureterovesical Junction Obstruction
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Yang DH, Chae HS, Jung SM, Lee SH, Lee YW, Lee SK, Choi YH
- KMID: 2293418
- Korean J Urol.
- 2004 Jul;45(7):739-741.
Cystic dysplasia of the testis is a rare benign congenital lesion of the rete testis that is often associated with renal and ureteral abnormalities. Herein, a case of cystic dysplasia... -
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- Bipartite Medial Cuneiform Combined with Accessory Navicular: A Case Report
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Lee TH, Nam IH, Moon GH, Lee YH, Ahn GY, Lee YH
- KMID: 1958703
- J Korean Foot Ankle Soc.
- 2015 Mar;19(1):32-34.
- doi: 10.14193/jkfas.2015.19.1.32
Accessory navicular is a congenital anomaly appearing in the secondary ossification center on the tuberosity of the navicular that may cause flatfoot. Bipartite medial cuneiform is another rare congenital anomaly... -
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- Familial Isolated Accessory Tragi
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Park MY, Kim YC
- KMID: 2302112
- Korean J Dermatol.
- 2008 Feb;46(2):238-240.
Accessory tragi are an unusual congenital disorder, which are derived from a developmental abnormality of the first branchial arch. They appear at birth as soft or firm skin-colored papules or... -
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- Dysplasia Epiphysialis Punctata: A Case Report
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Lee HB, Ha SH, Oh SK, Kang CJ, Kim YC
- KMID: 2445921
- J Korean Orthop Assoc.
- 1986 Aug;21(4):709-712.
- doi: 10.4055/jkoa.1986.21.4.709
Dysplasia epiphysialis punctata is a rare congenital disorder of infancy affecting in particular cartilage, muscle, jointtcapsules and the eyes. A case of dysplasia epiphysialis punctata with involvement of all epiphyses... -
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- A case of arthrogryposis multiplex congenita associated with maternal septate uterus
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Kim HK, Oh HK, Hong SY
- KMID: 2274141
- Korean J Obstet Gynecol.
- 2012 Sep;55(9):669-672.
- doi: 10.5468/KJOG.2012.55.9.669
Arthrogryposis multiplex congenita (AMC) is a congenital disorder showing multiple joint contractures. Although there are characteristic features in morphology, it is difficult to diagnose prenatally by ultrasonography. The causes of... -
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- Two Cases of Poland's Syndrome
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Lee KJ, Yune SH, Koh BH, Chae HK
- KMID: 2461379
- J Korean Orthop Assoc.
- 1976 Dec;11(4):732-735.
- doi: 10.4055/jkoa.1976.11.4.732
Polands syndrome is a congenital disorder associated with thoracic anomalies and ipsilateral syndactly. It was described first by Alfred Poland in 1841 year. We has been experienced 2 cases of... -
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- A Case of Meckel-Gruber Syndrome Diagnosed by Ultrasonography at 18 Weeks` Gestation
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Kim JH, Won HJ, Cha DH, Lee K
- KMID: 2076271
- Korean J Obstet Gynecol.
- 2001 May;44(5):1004-1007.
Meckel-Gruber syndrome is a congenital disorder characterized by occipital encephalocele, bilateral multicystic kidneys with fibrotic changes of the liver and postaxial polydactyly. Other anomalies are frequently associated. This syndrome is... -
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- A Case of Sturge-Weber Syndrome
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Choi JS, Yi KP, Hong KY
- KMID: 2336515
- J Korean Ophthalmol Soc.
- 1989 Jun;30(3):459-464.
Sturge-Weber syndrome is a congenital disorder characterized by facial nevus flammeus along the distribution of the trigeminal nerve, ipsilatal leptomeningioma, buphthalmos, and choroidal angioma. The Authors experienced a case of... -
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- A Case of Poland Syndrome Diagnosed by Prenatal Ultrasonography
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Cho HC, Kim HJ, Jin K, Park MC
- KMID: 2077535
- Korean J Obstet Gynecol.
- 2005 Dec;48(12):2971-2976.
Poland syndrome is a rare congenital disorder. It is characterized by unilateral chest wall hypoplasia, ipsilateral arm and hand abnormalities, and a variety of associated anomalies. It is suggested that... -
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- A Case of Antral Web in a Child
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Kim YJ
- KMID: 1929032
- Korean J Gastrointest Endosc.
- 1996 Oct;16(5):761-764.
Antral web is a very rare cause of vomiting in child, known to be a congenital disorder caused by incomplete recanalization of embryonic foregut, and in almost cases treated surgically.... -
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- Two Cases of Goldenhar's Syndrome
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Lee JH, Park SH, Shin HH
- KMID: 2107507
- J Korean Ophthalmol Soc.
- 1987 Dec;28(6):1385-1389.
Goldenhar's syndrome is a rare congenital disorder consisting of epibulbar dermoids or lipodermoids, auricular appendages and skeletal anomalies. There are anomalies resulting from faulty development of the first and second... -
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- A family with Townes-Brocks syndrome with congenital hypothyroidism and a novel mutation of the SALL1 gene
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Choi WI, Kim JH, Yoo HW, Oh SH
- KMID: 1455878
- Korean J Pediatr.
- 2010 Dec;53(12):1018-1021.
- doi: 10.3345/kjp.2010.53.12.1018
Townes-Brocks syndrome (TBS) is a rare autosomal dominant congenital disorder caused by mutations in the SALL1 gene. Its signs and symptoms overlap with other genetic syndromes, including VACTERL association, Pendred... -
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- A Case of Systematized Inflammatory Linear Verrucous Epidermal Nevus with Mandibular Hypoplasia
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Kim HS, Ha JM, Cho EB, Park EJ, Kim KH, Kim KJ
- KMID: 1734195
- Korean J Dermatol.
- 2014 Nov;52(11):817-820.
Inflammatory linear verrucous epidermal nevus (ILVEN) is an uncommon variant of verrucous epidermal nevus, clinically characterized by erythematous and hyperkeratotic verrucous papules with a typical linear arrangement. Most reported cases... -
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- Three Cases of Apert Syndrome (Acrocephalosyndactyly)
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Ahn YS, Lee JW, Bang J, Lee DB
- KMID: 2208507
- J Korean Pediatr Soc.
- 1994 Aug;37(8):1149-1155.
Apert syndrome is an uncommon, congenital disorder characterised by malformation of the skull, most often acrocephaly or oxycephaly, in association with symmetrical syndactyly of both hands and feet. It is... -
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- Congenital Onychodysplasia of the Index Fingers with a Y-shaped Bifurcation of the Distal Phalanx
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Kim HJ, Lee KG, Yi SM, Kim JH, Choi JE, Son SW, Kim IH
- KMID: 2301860
- Korean J Dermatol.
- 2010 Aug;48(8):729-731.
Congenital onychodysplasia of the index fingers (COIF, Iso and Kikuchi syndrome) is a congenital disorder characterized by various forms of nail dysplasias mainly-involving the index fingers. Its etiopathogenesis is still... -
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- A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus
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Suh BS, Ko KH, Lee KH, Sung TJ
- KMID: 2130694
- Neonatal Med.
- 2015 Nov;22(4):233-237.
- doi: 10.5385/nm.2015.22.4.233
Wolf-Hirschhorn syndrome is a congenital disorder associated with partial deletion of the short arm of chromosome 4. The majority of patients showed characteristic facial anomalies - so called "Greek-Helmet" appearances... -
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