Abstract
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.
Publication types
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Case Reports
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Comparative Study
MeSH terms
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Blepharophimosis / diagnosis*
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Blepharophimosis / genetics
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Child, Preschool
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Contracture / congenital
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Contracture / diagnosis*
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Contracture / genetics
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Ear / abnormalities
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Elbow / abnormalities
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Elbow / diagnostic imaging
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Face / abnormalities*
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Female
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Fingers / abnormalities*
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Genes, Recessive
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Hand Deformities, Congenital / diagnosis
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Hand Deformities, Congenital / genetics
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Humans
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Infant, Newborn
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Marfan Syndrome / diagnosis*
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Marfan Syndrome / genetics
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Radiography
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Syndrome