Marfan syndrome

Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.

Arachnodactyly

Abnormally long and slender fingers (\"spider fingers\").


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PMID (PMCID)
30369143
 OTHER Child
[Surgical correction of contractural arachnodactyly deformity of a child with Marfan syndrome].
Xia Z, Qiu W, Xu YX, Zhao YN.
Zhonghua Shao Shang Za Zhi. 2018;34(10):728-730.
A Marfan syndrome child with contractural arachnodactyly deformity of both hands was admitted to our unit in June 2015.
30369143
 OTHER Child
[Surgical correction of contractural arachnodactyly deformity of a child with Marfan syndrome].
Xia Z, Qiu W, Xu YX, Zhao YN.
Zhonghua Shao Shang Za Zhi. 2018;34(10):728-730.
[Surgical correction of contractural arachnodactyly deformity of a child with Marfan syndrome].
14586646
 MALE Infant, Newborn
Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.
Revencu N, Quenum G, Detaille T, Verellen G, De Paepe A, Verellen-Dumoulin C.
Eur J Pediatr. 2004;163(1):33-7.
Neonatal Marfan syndrome, the most severe presentation of Marfan syndrome phenotypes (MIM 154700), is characterised mainly by joint contractures, arachnodactyly, loose skin, crumpled ears, severe atrioventricular valve dysfunction and pulmonary emphysema.
10826862
 FEMALE Adult
Takayasu's arteritis concurrent with Marfan syndrome--a case report.
Baek HJ, Shin KC, Lee YJ, Kang SW, Lee EB, Song YW.
Angiology. 2000;51(5):435-9.
Marfan syndrome (MS) is a dominantly inherited connective tissue disorder characterized by arachnodactyly, tall stature, the presence of aortic aneurysm, and lens dislocation.
9735672
(4531946)
 MALE
A case of Marfan syndrome with acute monoblastic leukemia.
Lee JJ, Kim HJ, Chung IJ, Jeong MH, Kook H, Seo JS, Kim NJ, Park MR, Choi KS, Hwang TJ.
Korean J Intern Med. 1998;13(2):140-2.
A diagnosis of Marfan syndrome was established by those characteristics of arachnodactyly, ectopia lentis, mitral valve prolapse, and mitral regurgitation.
8319712
 MALE Infant
An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency.
Christodoulou J, Petrova-Benedict R, Robinson BH, Jay V, Clarke JT.
Eur J Pediatr. 1993;152(5):428-32.
We report the case of a 16-month-old male with the neonatal appearance of Marfan syndrome (NMS), with dolichocephaly, a long midface, deep-set eyes, arachnodactyly, dislocated lenses and carciovascular abnormalities.
1308360
 MALE Child
Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly.
Bawle E, Quigg MH.
Am J Med Genet. 1992;42(1):19-21.
Congenital contractural arachnodactyly (CCA) was described by Beals and Hecht as an autosomal dominant disorder distinct from Marfan syndrome and comprising joint contractures, arachnodactyly, scoliosis, and a distinct "crumpled ear" deformity.
1464550
 MALE Adult
[Marfan syndrome and cystic kidneys of the adult type].
Biermann CW, Gasser TC, Breuer C, Rutishauser G.
Helv Chir Acta. 1992;59(3):513-5.
For the first time Bernhard Marfan described the Marfan-Syndrome in 1896; it is a meso- and ectodermed variety with the conducting symptom of "arachnodactyly".
3223499
 MIXED_SAMPLE
Arachnodactyly and unusual dermatoglyphics: study of a case.
Krush AJ, Schaumann BA, Youssoufian H.
Am J Med Genet. 1988;31(1):57-62.
The anomalies, including contractural arachnodactyly, rhizomelia (a relative shortening of the proximal segment of the limbs), skin dimples, clinodactyly, disharmonic hand bone maturation, absent, hypoplastic and unusually positioned digital and metacarpophalangeal flexion creases, are not indicative of Marfan syndrome, but it is unclear what this syndrome constitutes.
3774401
 MALE Infant, Newborn
Pulmonary emphysema in a neonate with Marfan syndrome.
Day DL, Burke BA.
Pediatr Radiol. 1986;16(6):518-21.
A premature infant with arachnodactyly and congenital cyanotic heart disease had severe pulmonary emphysema, a little-known manifestation of Marfan syndrome.