- Macrodystrophia Lipomatosa of the Foot (A Case Report)
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Noh KH, Nam KY, Yoo JC, Lee JY
- KMID: 2063759
- J Korean Foot Ankle Soc.
- 2009 Jun;13(1):103-105.
Macrodystrophia lipomatosa is a congenital macrodactyly characterized by progressive overgrowth of all the mesenchymal elements of a digit or digits with a disproportionate increase in the fibroadipose tissue. We reported... -
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- Treatment of Congenital toe Anomalies
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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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- Acromegaloid Facial Appearance Syndrome with Generalized Hypertrichosis Terminalis
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Bang CY, Han SH, Byun J, Yang BH, Song HJ, In SG, Shin J, Choi GS
- KMID: 2303587
- Korean J Dermatol.
- 2011 Feb;49(2):184-187.
Acromegaloid facial appearance (AFA) syndrome is a rare autosomal dominant disease, consisting of an acromegaloid face, a bulbous nose, and narrowing of the palpaebral fissure. In 1996, Irvin first reported... -
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- A Case of Adams-Oliver Syndrome
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Seo JK, Kang JH, Lee HJ, Lee D, Sung HS, Hwang SW
- KMID: 2172050
- Ann Dermatol.
- 2010 Feb;22(1):96-98.
- doi: 10.5021/ad.2010.22.1.96
Adams-Oliver syndrome (AOS) is a congenital condition characterized by aplasia cutis congenita, transverse limb defects, and cutis marmorata telangiectatica. AOS can also be associated with extensive lethal anomalies of internal... -
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- A Case of Amniotic Band Syndrome Associated with Aplasia Cutis of the Scalp
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Lee KY, Kim JH, Oh KW, Jeong JY, Park SK, Kim JS
- KMID: 2144512
- J Korean Soc Neonatol.
- 2009 May;16(1):85-88.
The amniotic band syndrome is an uncommon congenital fetal abnormality, presumably due to fetal entanglement in strands of ruptured amniotic sac. The defects caused by this syndrome vary from simple... -
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- Aplasia Cutis Congenita of the Scalp Accompanied by Limb Hypoplasia: Adamson-Oliver Syndrome
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Ha YJ, Byun JY, Choi YW, Myung KB, Choi HY
- KMID: 1451734
- Korean J Dermatol.
- 2011 Oct;49(10):952-954.
Aplasia cutis congenita (ACC) is an uncommon condition which is characterized by congenital, localized or widespread absence of skin or scar formation. Lesions can be multiple and may occur on... -
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- Colon atresia, a rare comorbid condition in VACTERL association
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Hwangbo JH, Heo EY, Choo YS, Bae JY, Kim MJ, Seong WJ
- KMID: 2274138
- Korean J Obstet Gynecol.
- 2012 Sep;55(9):655-658.
- doi: 10.5468/KJOG.2012.55.9.655
Vertebral, anal, cardiac, tracheoesophageal, renal and limb (VACTERL) association is defined by the presence of at least three of the following six congenital malformations: vertebral defects, anal atresia, cardiac defects,... -
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- Conservative Management of Tracheal Injury After Endotracheal Intubation in a Neonate with Subglottic Stenosis and Esophageal Atresia with Tracheoesophageal Fistula
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Jung E, Choi SO, Park WH
- KMID: 2059046
- J Korean Assoc Pediatr Surg.
- 2010 Jun;16(1):37-42.
Tracheal injury is a rare complication of endo-tracheal intubation. However in neonates, the rates of morbidity and mortality are high. Recommendations for treatment are based on the several reports of... -
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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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- 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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- A Clinical Review of Esophageal Atresia : One Surgeon's Experience
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Kim SS, Rhim SY, Jung PM
- KMID: 1487209
- J Korean Assoc Pediatr Surg.
- 2008 Jun;14(1):12-20.
From 1979 to 2006, fifty eight patients with esophageal atresia were treated by one pediatric surgeon at Hanyang University Hospital. We analyzed the clinical findings and outcome of these 58... -
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- Pygomelia or supernumerary limbs in a crossbred calf
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Rahman MM, Khan MS, Biswas D, Sutradhar , Saifuddin
- KMID: 1089919
- J Vet Sci.
- 2006 Sep;7(3):303-305.
- doi: 10.4142/jvs.2006.7.3.303
A crossbred (Sindhi x local indigenous) calf that was 12 days old was admitted to the Teaching Veterinary Hospital, Chittagong Government Veterinary College, Bangladesh, with two accessory hind limbs attached... -
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- A Review of Macrodystrophia Lipomatosa: Revisitation
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Prasetyono TOH, Hanafi E, Astriana W
- KMID: 1950714
- Arch Plast Surg.
- 2015 Jul;42(4):391-406.
- doi: 10.5999/aps.2015.42.4.391
Macrodystrophia lipomatosa (MDL) is a rare congenital non-hereditary disorder that has significant impact on patient morbidity. This study provides a comprehensive review of the natural history, diagnosis, management, and outcomes... -
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- An 18-year experience of tracheoesophageal fistula and esophageal atresia
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Seo J, Kim DY, Kim AR, Kim DY, Kim SC, Kim IK, Kim KS, Yoon CH, Pi SY
- KMID: 2280950
- Korean J Pediatr.
- 2010 Jun;53(6):705-710.
- doi: 10.3345/kjp.2010.53.6.705
PURPOSE: To determine the clinical manifestations and outcomes of patients with tracheoesophageal fistula (TEF) and esophageal atresia (EA) born at a single neonatal intensive care unit. METHODS: A retrospective analysis was... -
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- A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity?
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Ozcan D, Derbent M, Seckin D, Bikmaz YE, Agildere M, De Sandre-Giovannoli A, Levy N, Gurakan B
- KMID: 2265064
- Ann Dermatol.
- 2013 Nov;25(4):483-488.
- doi: 10.5021/ad.2013.25.4.483
Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial... -
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- Surgical Treatment of Macrodystrophia Lipomatosa Involving Superficial Peroneal Nerve in the Foot and Ankle
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Kang SH, Shin SJ, Eho YJ
- KMID: 2421352
- J Korean Orthop Assoc.
- 2017 Dec;52(6):566-571.
- doi: 10.4055/jkoa.2017.52.6.566
Macrodystrophia lipomatosa is a congenital disease characterized by gradual proliferation in the mesenchymal cell, such as fibroadipose tissue. Pathologically, fatty tissue is deposited in the nerve sheath, periosteum, bone marrow,... -
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- Point Mutation of Hoxd12 in Mice
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Cho KW, Kim JY, Cho JW, Cho KH, Song CW, Jung HS
- KMID: 1782945
- Yonsei Med J.
- 2008 Dec;49(6):965-972.
- doi: 10.3349/ymj.2008.49.6.965
PURPOSE: Genes of the HoxD cluster play a major role in vertebrate limb development, and changes that modify the Hoxd12 locus affect other genes also, suggesting that HoxD function is... -
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- Two Cases of Lipofibromatous Hamartoma
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Kim NJ, Park ES, Choi HJ, Shin HS, Jung SG, Lee YM
- KMID: 1920357
- J Korean Soc Plast Reconstr Surg.
- 2009 May;36(3):356-360.
PURPOSE: Lipofibromatous hamartoma (LFH) of nerve is a tumor-like lipomatous process principally involving the young persons. This is a rare disease characterized by a soft slowly growing mass surrounding and... -
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- Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K)
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Park KE, Kim SA, Kang MJ, Kim HS, Cho SI, Yoo KW, Kim SY, Lee HJ, Oh SK, Seong MW, Ku SY, Jun JK, Park SS, Choi YM, Moon SY
- KMID: 1430083
- Clin Exp Reprod Med.
- 2013 Mar;40(1):42-46.
- doi: 10.5653/cerm.2013.40.1.42
Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia, usually caused by a heterozygous mutation in the fibroblast growth factor receptor 3 gene (FGFR3). A 27-year-old HCH woman with a... -
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- Prenatal Sonographic Diagnosis of Focal Musculoskeletal Anomalies
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Ryu JK, Cho JY, Choi JS
- KMID: 1111254
- Korean J Radiol.
- 2003 Dec;4(4):243-251.
- doi: 10.3348/kjr.2003.4.4.243
Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and... -
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