|3.||Congenital Abnormalities (Deformity)
|4.||Marfan Syndrome (Marfan's Syndrome)
|1.||Sakai, Lynn Y: 2 articles (09/2015 - 11/2007)|
|2.||Alanay, Yasemin: 2 articles (07/2011 - 01/2006)|
|3.||Tunçbilek, Ergül: 2 articles (01/2006 - 01/2004)|
|4.||Oltra, Silvestre: 1 article (11/2015)|
|5.||Roselló, Mónica: 1 article (11/2015)|
|6.||Marín-Reina, Purificación: 1 article (11/2015)|
|7.||Perez-Aytés, Antonio: 1 article (11/2015)|
|8.||Orellana, Carmen: 1 article (11/2015)|
|9.||Monfort, Sandra: 1 article (11/2015)|
|10.||Pantoja, Jorge: 1 article (11/2015)|
|1.||Marfanoid hypermobility syndromeIBA
04/28/1998 - "We report on 2 unrelated Indian girls with blepharophimosis, arachnodactyly, digital contractures which improved spontaneously, elbow deformity, beaked nose, everted lips, and large ears, findings similar to those in 2 cases reported previously by Van Den Ende et al. [1992, Am J Med Genet 42:467-469] and Gupta et al. [1995, J Med Genet 32:809-812], thus delineating a new syndrome of contractural arachnodactyly with characteristic facial anomalies."
|2.||Congenital contractural arachnodactylyIBA
06/01/1985 - "A review of 29 other kindreds described in the literature with congenital contractural arachnodactyly shows that in this condition the most common features are abnormally formed ears, camptodactyly, arachnodactyly, adducted thumbs, limited movement of the elbows and knees, and underdevelopment of the calf muscles. "
05/01/2015 - "Beals syndrome is an autosomal-dominant connective tissue disorder, characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, crumpled ear, and muscular hypoplasia. "
06/01/2009 - "Congenital contractural arachnodactyly (Beals syndrome) is a rare autosomal dominantly inherited connective tissue disorder characterized by flexion contractures, arachnodactyly, crumpled ears, and mild muscular hypoplasia. "
03/01/2009 - "Arachnodactyly is an hallmark of hereditary connective tissue disorders such as Marfan's syndrome and Beals' syndrome. "
01/01/2006 - "Congenital contractural arachnodactyly (Beals syndrome) is an autosomal dominantly inherited connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia. "
08/01/1994 - "A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly."
07/15/2011 - "After exome sequencing in GD and AD cases, we selected fibrillin 1 (FBN1) as a candidate gene, even though mutations in this gene have been described in Marfan syndrome, which is characterized by tall stature and arachnodactyly. "
03/01/2009 - "This genetic disease is characterized by dolichostenomelia and arachnodactyly, in addition to contractures of the large joints and abnormal pinnae formation, thus indicating the significance of fibrillin-2 in chondrogenesis. "
08/28/1995 - "Significant correlations were found for phenotypic features including arachnodactyly, striae distensae, cardiovascular manifestations, and fibrillin groups II and IV, which included 70% of the MFS patients. "
09/01/2015 - "Today we know that mutations in fibrillin-1 cause the Marfan syndrome as well as Weill-Marchesani syndrome (and other acromelic dysplasias) and result in opposite clinical phenotypes: tall or short stature; arachnodactyly or brachydactyly; joint hypermobility or stiff joints; hypomuscularity or hypermuscularity. "
|4.||Keratosis palmoplantaris with periodontopathia and onychogryposisIBA
02/01/2005 - "Haim-Munk syndrome (HMS) is a rare autosomal recessive disorder characterized clinically by abnormal palmoplantar hyperkeratosis and destruction of the periodontium, with hallmarks of onychogryphosis and arachnodactyly. "
05/01/2010 - "The additional findings of Haim Munk Syndrome include onychogryphosis, arachnodactyly, acral osteolysis and pes planus. "
07/01/2010 - "Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. "
07/01/2010 - "Haim-Munk syndrome is an extremely rare autosomal recessive disorder characterized clinically by palmoplantar hyperkeratosis, aggressive periodontitis with severe alveolar bone destruction, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. "
02/01/2008 - "Haim-Munk syndrome is an extremely rare autosomal recessive disorder of keratinization characterized clinically by palmoplantar hyperkeratosis, severe early onset periodontitis, onychogryphosis, pes planus, arachnodactyly, and acro-osteolysis. "
|5.||Marden Walker like syndromeIBA
12/01/2010 - "Van Den Ende-Gupta syndrome (VDEGS) is an infrequently described disorder characterized by arachnodactyly, camptodactyly, blepharophimosis, malar hypoplasia, narrow nasal bridge, convex nasal ridge, and everted lower lip. "
06/01/2009 - "van den Ende-Gupta syndrome is characterized by craniofacial and skeletal manifestations, mainly malar and/or maxillary hypoplasia, blepharophimosis, distinctive nose, lower lip eversion, arachnodactyly, camptodactyly, and long slender bones of hands and feet. "
04/30/2003 - "This is the fifth report of VDEGS, which is characterized by blepharophimosis, narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, slender and elongated hands and feet, arachnodactyly, self-limiting joint contractures, and distinctive skeletal findings. "
07/01/2009 - "Iris coloboma, blepharophimosis, arachnodactyly, joint contractures: Beals syndrome and Van den Ende-Gupta syndrome phenotypic similarities."
04/30/2003 - "While, congenital contractures with arachnodactyly are features commonly seen in several other delineated syndromes, such as congenital contractural arachnodactyly (CCA) syndrome, characteristic facial features (blepharophimosis, narrow nose with ocular hypertelorism, prominent ears, and everted lower lip), distinguish VDEGS from other syndromes associated with CCA, including CCA."
05/01/2012 - "Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis. "
07/03/1995 - "Marden-Walker syndrome is an autosomal-recessive disorder characterized by psychomotor retardation, blepharophimosis, joint contractures, arachnodactyly, failure to thrive, and, infrequently, renal anomalies. "
01/01/1975 - "Main features of the Marden-Walker syndrome are failure to thrive, marked motor and mental retardation, and multiple malformations in the form of peculiar facies associated wilth poor muscle mass, mild congenital joint contractures, pigeon breast, kyphoscoliosis and arachnodactyly. "
|7.||Neuraminidase deficiency with beta-galactosidase deficiencyIBA
01/01/2013 - "Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal's syndrome) and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta. "
04/30/2004 - "Mutations of the fibrillin-1 (FBN1) gene on chromosome 15 have been described in patients with classical Marfan syndrome (MFS), neonatal MFS, the "MASS" phenotype, autosomal dominant ascending aortic aneurysms, autosomal dominant ectopia lentis (EL), Marfanoid skeletal features [Milewicz et al., 1995: J Clin Invest 95:2373-2378], familial arachnodactyly, Shprintzen-Goldberg syndrome [Hayward et al., 1994: Mol Cell Probes 8:325-327; Furthmayr and Francke, 1997: Semin Thorac Cardiovasc Surg 9:191-205], and severe progressive kyphoscoliosis [Adès et al., 2002: Am J Med Genet 109:261-270]. "
09/01/2009 - "Our observation increases the number of cases with fibulin-4 mutations to three and extends the phenotypic spectrum of fibulin-4 mutations by microcephaly, overgrowth and arachnodactyly."
11/15/2007 - "Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa."
|9.||DNA (Deoxyribonucleic Acid)IBA
11/01/2015 - "Two frameshift mutations and a donor-splice one caused MSS, while two missense mutations in the DNA binding/dimerisation domain entailed an overgrowth syndrome with some clinical features resembling Sotos syndrome, accompanied by a marfanoid habitus, very low BMI, long narrow face, or arachnodactyly. "
11/01/1947 - "A family showing arachnodactyly with colombata of lenses and choroid."
05/01/1993 - "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. "
09/01/1956 - "[Arachnodactyly and ectopy of the crystalline lenses with retinal detachment]."
12/01/1990 - "Other useful clinical findings included arachnodactyly, dolichocephaly, a characteristic facies, a high-arched palate, micrognathia, hyperextensible joints, pes planus, anterior chest deformity, iridodenesis, megalocornea, and dislocated lenses. "