Total: 13 |
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PMID (PMCID) | ||
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28209770 |
MALE | |
Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome? | ||
Woolnough R, Dhawan A, Dow K, Walia JS. Pediatrics. 2017;139(3):. |
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Beals syndrome, also known as congenital contractural arachnodactyly (Online Mendelian Inheritance in Man: 121050), is an autosomal dominant disorder caused by a mutation in FBN2 that is typically characterized by congenital contractures and arachnodactyly. | ||
28209770 |
MALE | |
Are Patients With Loeys-Dietz Syndrome Misdiagnosed With Beals Syndrome? | ||
Woolnough R, Dhawan A, Dow K, Walia JS. Pediatrics. 2017;139(3):. |
||
Beals syndrome, also known as congenital contractural arachnodactyly (Online Mendelian Inheritance in Man: 121050), is an autosomal dominant disorder caused by a mutation in FBN2 that is typically characterized by congenital contractures and arachnodactyly. | ||
27625873 |
OTHER | |
Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene. | ||
Mehar V, Yadav D, Kumar R, Yadav S, Singh K, Callewaert B, Pathan S, De Paepe A, Coucke PJ. J Pediatr Genet. 2014;3(3):163-6. |
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Congenital contractural arachnodactyly is a rare autosomal dominant disorder characterized by crumpled ears, congenital contractures, arachnodactyly and scoliosis. | ||
23595522 |
MALE | |
Congenital contractural arachnodactyly (Beals-Hecht syndrome): a rare connective tissue disorder. | ||
Jurko A Jr, Krsiakova J, Minarik M, Tonhajzerova I. Wien Klin Wochenschr. 2013;125(9-10):288-90. |
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Congenital contractural arachnodactyly (CCA) or Beals-Hecht syndrome (BHS) presents a very rare connective tissue disorder characterized by narrow body habitus, crumpled ears, arachnodactyly, contractures, and scoliosis. | ||
19124263 |
MIXED_SAMPLE | Middle Aged |
Familial chilblain and late contractural arachnodactyly: a novel association? | ||
Piga M, Vacca A, Cauli A, Porru G, Mathieu A. Joint Bone Spine. 2009;76(2):205-8. |
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Arachnodactyly is an hallmark of hereditary connective tissue disorders such as Marfan's syndrome and Beals' syndrome. | ||
15017482 |
MIXED_SAMPLE | Infant, Newborn |
Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence? | ||
Kupeli S, Korkmaz A, Bulun A, Yurdakok M, Tuncbilek E. Am J Perinatol. 2004;21(1):41-4. |
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Congenital contractural arachnodactyly (CCA, Beals syndrome) is an autosomal-dominant connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae, and muscular hypoplasia. | ||
12673658 |
MALE | Child |
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. | ||
Schweitzer DN, Lachman RS, Pressman BD, Graham JM Jr. Am J Med Genet A. 2003;118A(3):267-73. |
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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. | ||
12673658 |
MALE | Child |
van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers. | ||
Schweitzer DN, Lachman RS, Pressman BD, Graham JM Jr. Am J Med Genet A. 2003;118A(3):267-73. |
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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. | ||
11400038 |
FEMALE | |
Congenital contractural arachnodactyly with neurogenic muscular atrophy: case report. | ||
Scola RH, Werneck LC, Iwamoto FM, Ribas LC, Raskin S, Correa Neto Y. Arq Neuropsiquiatr. 2001;59(2-A):259-62. |
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We report the case of a 3-(1/2)-year-old girl with hypotonia, multiple joint contractures, hip luxation, arachnodactyly, adducted thumbs, dolichostenomelia, and abnormal external ears suggesting the diagnosis of congenital contractural arachnodactyly (CCA). | ||
9737771 |
MIXED_SAMPLE | |
A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. | ||
Babcock D, Gasner C, Francke U, Maslen C. Hum Genet. 1998;103(1):22-8. |
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Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder of connective tissue and is characterized by multiple congenital contractures, arachnodactyly, and external ear malformations. | ||
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. |
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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. | ||
3789025 |
MIXED_SAMPLE | Infant, Newborn |
A severe form of congenital contractural arachnodactyly in two newborn infants. | ||
Currarino G, Friedman JM. Am J Med Genet. 1986;25(4):763-73. |
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Congenital contractural arachnodactyly (CCA) is an uncommon condition characterized by arachnodactyly, dolichostenomelia, kyphoscoliosis, "crumpled" auricles, and flexion contractures at knees, elbows, fingers, and sometimes other joints. | ||
4017278 |
MIXED_SAMPLE | Infant, Newborn |
Congenital contractural arachnodactyly. Report of four additional families and review of literature. | ||
Ramos Arroyo MA, Weaver DD, Beals RK. Clin Genet. 1985;27(6):570-81. |
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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. |