Abstract
Two siblings, a 17 year-old female and a 15 year-old boy, with a hitherto unidentified malformation syndrome are reported. Both presented with corneal clouding, subvalvular aortic stenosis, midfacial hypoplasia, skeletal anomalies, and a variable degree of growth- and mental retardation.
MeSH terms
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Adolescent
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Aortic Stenosis, Subvalvular / genetics*
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Bone Diseases, Developmental / genetics*
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Cardiomyopathy, Hypertrophic / genetics*
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Corneal Opacity / genetics*
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Face
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Female
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Genes, Recessive
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Growth Disorders / genetics*
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Humans
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Intellectual Disability / genetics*
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Male
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Syndrome