Abstract
To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. The London Dysmorphology Database was used to determine whether this is a new syndrome.
MeSH terms
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Abnormalities, Multiple
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Blepharoptosis / genetics*
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Body Height
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Bone Diseases, Developmental / genetics*
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Child
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Child, Preschool
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Coloboma / genetics*
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Female
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Genes, Recessive
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Humans
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Hypertelorism / genetics*
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Intellectual Disability / genetics*
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Iris / abnormalities*
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Male
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Syndrome